| Accession | HsInv0180 | Region of the inversion | chr1:245357627-245400877 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 41,947 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Breaks one gene | Breakpoint 1 | chr1:245357627-245358504 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:245399146-245400877 |
| Comments | False inversion prediction due to incorrect paired-end mapping caused by sequence differences between inverted repeats
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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 | chr1:245357627-245358504 | Breakpoint 2 | chr1:245399146-245400877 | ||||||||||||||||||||
| D/C Score | -4.24 | Disc. Support Prob. | 0.00072 | ||||||||||||||||||||
| Support | 5 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability. Discordant PEM pattern caused by incorrect mapping of one end of all fosmids due to sequence variation within inverted repeats. | ||||||||||||||||||||||
+ 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 | Sequence analysis indicates that inversion prediction is caused by incorrect paired-end mapping due to a variable sequence region when comparing HG18 and HuRef inverted repeats |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:245357627-245358504 | Breakpoint 2 | chr1:245399146-245400877 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.84 | GC content | 0.42 | Stability | 1.86 |
+ 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
- ZNF124
| Gene position | chr1:245351899-245401941 |
| Mechanism | Inverts different exons and introns of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:25
| Breakpoint 1 | chr1:245357627-245358504 | Breakpoint 2 | chr1:245399146-245400877 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
