| Accession | HsInv0532 | Region of the inversion | chr12:119161391-119202350 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 30,710 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Breaks one gene | Breakpoint 1 | chr12:119161391-119166094 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:119186554-119202350 |
| Comments | False inversion prediction caused by error during fosmid paired-end sequencing
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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 | chr12:119161391-119166094 | Breakpoint 2 | chr12:119186554-119202350 | ||||||||||||||||||||
| D/C Score | -6.02 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 5 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Analysis of fosmids supporting the inversion indicates that all of them have one end-read mapping in same region caused probably by misspriming of sequencing primer inside the fosmid. Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ 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 | Fosmid sequence analysis |
| Status | False |
| Comment | Analysis of AC203663.3 fosmid sequence indicates that the whole fosmid maps continuously and with high identity to HG18, and that the PEM Rev read maps internally within the fosmid, probably due to misspriming during sequencing |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:119161391-119166094 | Breakpoint 2 | chr12:119186554-119202350 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.48 | GC content | 0.58 | Stability | 2.11 |
+ 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
- PXN
| Gene position | chr12:119132624-119187957 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:27
| Breakpoint 1 | chr12:119161391-119166094 | Breakpoint 2 | chr12:119186554-119202350 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
