| Accession | HsInv0340 | Region of the inversion | chr13:63188985-63241591 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 48,350 bp | Supporting predictions | 1 |
| Inverted allele frequency | 0.0536 | Mechanism of origin | NAHR |
| Functional effect | Breaks one gene | Breakpoint 1 | chr13:63188985-63193242 |
| Ancestral orientation | Inverted | Breakpoint 2 | chr13:63237334-63241591 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
- Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr13:63188099-63200001 | Breakpoint 2 | chr13:63229254-63246001 | ||||||||||||||||||||
| D/C Score | -0.38 | Disc. Support Prob. | 0.93654 | ||||||||||||||||||||
| Support | 15 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Validation and genotyping of 22 inversion predictions by inverse PCR | ||||
| Method | Inverse polymerase chain reaction (iPCR) |
| Status | Validated |
| Genotyping | 81 individuals: 80 HapMap/1000GP, 1 Other 72 STD/STD - 5 STD/INV - 2 INV/INV - 2 ND |
-Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||
| Method | Fosmid sequence analysis |
| Status | Validated |
| Method | Fosmid sequence analysis |
| Status | Validated |
- Frequency
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+ Africa (AFR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
Yoruba
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Yoruba in Ibadan, Nigeria (YRI) (Aguado et al. 2014) | 6 | 5 | 0.5833 | 0.4167 | > 0.5 |
| Africa (AFR)
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Africa (AFR) summary | 6 | 5 | 0.5833 | 0.4167 | > 0.5 |
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+ Europe (EUR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Northwestern European
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Utah residents with Northern and Western European ancestry (CEU) (Aguado et al. 2014) | 47 | 1 | 0.9894 | 0.0106 | > 0.5 |
| Europe (EUR)
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Europe (EUR) summary | 47 | 1 | 0.9894 | 0.0106 | > 0.5 |
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+ East Asia (EAS)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Han Chinese
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Han Chinese in Beijing, China (CHB) (Aguado et al. 2014) | 1 | 0 | 1.0000 | 0.0000 | NA |
| Japanese
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Japanese in Tokyo, Japan (JPT) (Aguado et al. 2014) | 1 | 0 | 1.0000 | 0.0000 | NA |
| East Asia (EAS)
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East Asia (EAS) summary | 2 | 0 | 1.0000 | 0.0000 | NA |
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+ Unknown
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Unknown
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Unknown (Aguado et al. 2014) | 1 | 0 | 1.0000 | 0.0000 | NA |
| Unknown
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Unknown summary | 1 | 0 | 1.0000 | 0.0000 | NA |
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+ Breakpoints
| Breakpoint 1 | chr13:63188985-63193242 | Breakpoint 2 | chr13:63237334-63241591 | |||||||||||||
| Description | Complete sequenced Fosmid analisis | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 9.71 | GC content | 0.5 | Stability | 1.9 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 10.6 kb inverted SDs with almost 100% identity |
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Sequence features |
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Segmental duplications:
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+ Evolutionary history
| Ancestral allele | Inverted | Age | ND |
| Derived allele | Standard | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Polymorphic | Inverse polymerase chain reaction (iPCR) | Aguado et al. 2014 |
| Gorilla | Inverted | Inverse polymerase chain reaction (iPCR) | Aguado et al. 2014 |
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
| Gene position | chr13:63139815-63210152 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:42
| Breakpoint 1 | chr13:63188099-63200001 | Breakpoint 2 | chr13:63229254-63246001 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:42
| Breakpoint 1 | chr13:63188985-63193242 | Breakpoint 2 | chr13:63237334-63241591 |
| Assembly | hg18 | ||
| Description | Complete sequenced Fosmid analisis | ||
| Definition method | Manual curation | ||
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Contact us at invfestdb@researchmar.net
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