| Accession | HsInv0751 | Region of the inversion | chr12:9294929-9515334 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 158,451 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr12:9294929-9357166 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:9453661-9515334 |
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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 | chr12:9339639-9341460 | Breakpoint 2 | chr12:9489694-9492347 | ||||||||||||||||||||
| D/C Score | -4.89 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 13 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 | chr12:9294929-9338644 | Breakpoint 2 | chr12:9469776-9515334 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 3 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr12:9351542-9357166 | Breakpoint 2 | chr12:9453661-9460621 | ||||||||||||||||||||
| D/C Score | -6.55 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 12 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 | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:9294929-9357166 | Breakpoint 2 | chr12:9453661-9515334 | |||||||||||||
| 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 | 11.18 | GC content | 0.39 | Stability | 1.8 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr12:9327471-9366975 | 39,505 | chr12:9452534-9492133 | 39,600 | 0.987 | 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
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:39
| Breakpoint 1 | chr12:9294929-9357166 | Breakpoint 2 | chr12:9453661-9515334 |
| 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 10:14:39
| Breakpoint 1 | chr12:9294929-9357166 | Breakpoint 2 | chr12:9453661-9492347 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
