| Accession | HsInv0670 | Region of the inversion | chr2:131002743-131056122 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 51,206 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr2:131002743-131003484 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:131052516-131056122 |
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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 | chr2:131002743-131003484 | Breakpoint 2 | chr2:131052516-131056122 | ||||||||||||||||||||
| D/C Score | -2.96 | Disc. Support Prob. | 0.00249 | ||||||||||||||||||||
| Support | 10 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr2:131002743-131003484 | Breakpoint 2 | chr2:131052516-131056122 | |||||||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 11 | GC content | 0.42 | Stability | 1.88 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr2:130875596-131143174 | 267,579 | chr2:130923990-131193978 | 269,989 | 0.993 | Inverted |
| chr2:130923990-131193978 | 269,989 | chr2:130875596-131143174 | 267,579 | 0.993 | Inverted |
+ 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
+ Report history
- 2015-02-23 10:14:53
| Breakpoint 1 | chr2:131002743-131003484 | Breakpoint 2 | chr2:131052516-131056122 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
