| Accession | HsInv0481 | Region of the inversion | chr6:31107734-31172856 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 35,244 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr6:31107734-31127533 |
| Ancestral orientation | NA | Breakpoint 2 | chr6:31132897-31172856 |
| Comments | Inversion overlapping HsInv0058 supported by only one independent prediction that is probably false due to errors 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 | chr6:31079812-31117897 | Breakpoint 2 | chr6:31118075-31154860 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99994 | ||||||||||||||||||||
| Support | 6 probes  | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr6:31107734-31127533 | Breakpoint 2 | chr6:31132897-31172856 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0.36327 | ||||||||||||||||||||
| Support | 2 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 | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr6:31107734-31127533 | Breakpoint 2 | chr6:31132897-31172856 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.95 | GC content | 0.49 | Stability | 1.82 |
+ 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 10:14:44
| Breakpoint 1 | chr6:31107734-31127533 | Breakpoint 2 | chr6:31132897-31172856 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
