| Accession | HsInv0023 | Region of the inversion | chr12:17814364-17903973 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 88,528 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr12:17814364-17815298 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:17902742-17903973 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr12:17815364-17815364 | Breakpoint 2 | chr12:17902973-17902973 | ||||
| Individuals |
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- 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 | chr12:17811581-17815298 | Breakpoint 2 | chr12:17902742-17904515 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99999 | ||||||||||||||||||||
| Support | 131 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:17814364-17815298 | Breakpoint 2 | chr12:17902742-17903973 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.43 | GC content | 0.35 | 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 10:14:27
| Breakpoint 1 | chr12:17814364-17815298 | Breakpoint 2 | chr12:17902742-17903973 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
