| Accession | HsInv1125 | Region of the inversion | chr8:48374842-48396226 |
| Status | Predicted | Prediction type | Complex |
| Estimated Inversion Size | 15,342 bp | Supporting predictions | 5 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr8:48374842-48378484 |
| Ancestral orientation | NA | Breakpoint 2 | chr8:48387781-48396226 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr8:48376139-48377100 | Breakpoint 2 | chr8:48393968-48394007 | ||||
| Individuals |
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| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr8:48376574-48376574 | Breakpoint 2 | chr8:48391567-48391567 | ||||||
| Individuals |
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| Name | |||||||||
| Breakpoint 1 | chr8:48379772-48379772 | Breakpoint 2 | chr8:48395351-48395351 | ||||||
| Individuals |
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| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr8:48377484-48377484 | Breakpoint 2 | chr8:48388781-48388781 | ||||
| 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 | chr8:48355078-48377070 | Breakpoint 2 | chr8:48393419-48416581 | ||||||||||||||||||||
| D/C Score | 1.56 | Disc. Support Prob. | 0.99711 | ||||||||||||||||||||
| Support | 56 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr8:48374842-48378484 | Breakpoint 2 | chr8:48387781-48396226 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.09 | GC content | 0.41 | Stability | 1.91 |
+ 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
- SPIDR
| Gene position | chr8:48336041-48811116 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
