| Accession | HsInv0256 | Region of the inversion | chr2:87475914-91074539 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 3,553,889 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr2:87475914-87516164 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:91025315-91074539 |
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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 | chr2:87477323-87478121 | Breakpoint 2 | chr2:91027005-91074539 | ||||||||||||||||||||
| D/C Score | -3.07 | Disc. Support Prob. | 0.00001 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr2:87477323-87516164 | Breakpoint 2 | chr2:91025315-91067425 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.00004 | ||||||||||||||||||||
| Support | 2 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr2:87475914-87516164 | Breakpoint 2 | chr2:91057854-91067425 | ||||||||||||||||||||
| D/C Score | -1.62 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 13 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr2:87475914-87516164 | Breakpoint 2 | chr2:91025315-91074539 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 9.8 | GC content | 0.54 | Stability | 2.12 |
+ 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 10:14:52
| Breakpoint 1 | chr2:87475914-87516164 | Breakpoint 2 | chr2:91025315-91074539 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:52
| Breakpoint 1 | chr2:87477323-87478121 | Breakpoint 2 | chr2:91057854-91067425 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
