| Accession | HsInv0343 | Region of the inversion | chr13:87865882-87946467 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 40,433 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr13:87865882-87910604 |
| Ancestral orientation | NA | Breakpoint 2 | chr13:87910882-87946467 |
| Comments | False inversion prediction possibly caused by incorrect paired-end mapping due to a polymorphic indel
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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 | chr13:87865882-87910604 | Breakpoint 2 | chr13:87910882-87946467 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99998 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Discordant PEM pattern caused by incorrect mapping of one end of the two fosmids due to a polymorphic indel that is not present in the HG18 genome | ||||||||||||||||||||||
+ Validation and genotyping
-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 | Sequence analysis |
| Status | False |
| Comment | Analysis of the fosmid reads supporting the inversion shows that both have an additional concordant hit in HG18 and map completely as concordant in the HuRef genome due to a polymorphic indel absent in the HG18 and present in the HuRef sequence |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr13:87865882-87910604 | Breakpoint 2 | chr13:87910882-87946467 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.53 | GC content | 0.48 | Stability | 1.95 |
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:28
| Breakpoint 1 | chr13:87865882-87910604 | Breakpoint 2 | chr13:87910882-87946467 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
