| Accession | HsInv0450 | Region of the inversion | chr2:88899966-88996623 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 59,005 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr2:88899966-88945251 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:88966603-88996623 |
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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 | chr2:88899966-88925453 | Breakpoint 2 | chr2:88972449-88989830 | ||||||||||||||||||||
| D/C Score | -1.11 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 10 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr2:88919127-88945251 | Breakpoint 2 | chr2:88966603-88996623 | ||||||||||||||||||||
| D/C Score | -0.41 | Disc. Support Prob. | 0.00035 | ||||||||||||||||||||
| Support | 12 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 | chr2:88899966-88945251 | Breakpoint 2 | chr2:88966603-88996623 | ||
| 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 | 12.77 | GC content | 0.24 | Stability | 1.58 |
+ 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 | chr2:88899966-88945251 | Breakpoint 2 | chr2:88966603-88996623 |
| 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 | chr2:88899966-88925453 | Breakpoint 2 | chr2:88972449-88989830 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
