| Accession | HsInv0480 | Region of the inversion | chr6:19066482-19095221 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 25,349 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr6:19066482-19069687 |
| Ancestral orientation | NA | Breakpoint 2 | chr6:19091645-19095221 |
| 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 | chr6:19066482-19069687 | Breakpoint 2 | chr6:19091645-19095221 | ||||||||||||||||||||
| D/C Score | -1.97 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 3 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 AC225616.2 fosmid sequence indicates that the fosmid is chimeric (pos. 1-20561 map continuously and with high identity to Chr. 2 and pos. 20642-40345 map continuously and with high identity to Chr. 6), and that the PEM Rev read maps internally within the fosmid, probably due to misspriming during sequencing |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr6:19066482-19069687 | Breakpoint 2 | chr6:19091645-19095221 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.4 | GC content | 0.43 | Stability | 1.83 |
+ 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 10:14:33
| Breakpoint 1 | chr6:19066482-19069687 | Breakpoint 2 | chr6:19091645-19095221 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
