| Accession | HsInv0647 | Region of the inversion | chr1:104024993-104104810 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 43,610 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr1:104024993-104060349 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:104067750-104104810 |
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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 | chr1:104024993-104060349 | Breakpoint 2 | chr1:104067750-104104810 | ||||||||||||||||||||
| D/C Score | 0.22 | Disc. Support Prob. | 0.25697 | ||||||||||||||||||||
| Support | 7 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:104024993-104060349 | Breakpoint 2 | chr1:104067750-104104810 | |||||||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.73 | GC content | 0.42 | Stability | 1.85 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr1:104014189-104044791 | 30,603 | chr1:104089607-104118990 | 29,384 | 0.955 | Inverted |
| chr1:104057651-104079954 | 22,304 | chr1:104096507-104118992 | 22,486 | 0.910 | Direct |
+ 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 10:14:41
| Breakpoint 1 | chr1:104024993-104060349 | Breakpoint 2 | chr1:104067750-104104810 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
