| Accession | HsInv0228 | Region of the inversion | chr1:148052888-148114345 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 50,028 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr1:148052888-148060444 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:148099040-148114345 |
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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 | chr1:148038750-148082470 | Breakpoint 2 | chr1:148085010-148120218 | ||||
| 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 | chr1:148052888-148060444 | Breakpoint 2 | chr1:148099040-148114345 | ||||||||||||||||||||
| D/C Score | -0.22 | Disc. Support Prob. | 0.01246 | ||||||||||||||||||||
| Support | 25 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:148052888-148060444 | Breakpoint 2 | chr1:148099040-148114345 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.52 | GC content | 0.53 | Stability | 2.06 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr1:148055664-148081709 | 26,046 | chr1:148088485-148114553 | 26,069 | 0.999 | 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 10:14:25
| Breakpoint 1 | chr1:148052888-148060444 | Breakpoint 2 | chr1:148099040-148114345 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:25
| Breakpoint 1 | chr1:148052888-148060444 | Breakpoint 2 | chr1:148099040-148114345 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:25
| Breakpoint 1 | chr1:148052888-148060444 | Breakpoint 2 | chr1:148099040-148114345 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
