| Accession | HsInv0702 | Region of the inversion | chr7:142931786-143106545 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 134,620 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr7:142931786-142972248 |
| Ancestral orientation | NA | Breakpoint 2 | chr7:143066726-143106545 |
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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 | chr7:142931786-142972248 | Breakpoint 2 | chr7:143066726-143106545 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0.06986 | ||||||||||||||||||||
| Support | 5 probes  | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr7:142966773-142970540 | Breakpoint 2 | chr7:143079675-143091230 | ||||||||||||||||||||
| D/C Score | -5.52 | Disc. Support Prob. | 0.00146 | ||||||||||||||||||||
| Support | 9 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 | chr7:142931786-142972248 | Breakpoint 2 | chr7:143066726-143106545 | |||||||||||||||||||
| Description | Breakpoints calculated without considering unreliable predictions | |||||||||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 11.7 | GC content | 0.28 | Stability | 1.73 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr7:142928984-142994356 | 65,373 | chr7:143070349-143135726 | 65,378 | 0.998 | Inverted |
| chr7:142971345-142973564 | 2,220 | chr7:143065501-143067720 | 2,220 | 0.994 | 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 10:14:55
| Breakpoint 1 | chr7:142966773-142970540 | Breakpoint 2 | chr7:143079675-143091230 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:55
| Breakpoint 1 | chr7:142931786-142972248 | Breakpoint 2 | chr7:143066726-143106545 |
| Assembly | hg18 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
