| Accession | HsInv1120 | Region of the inversion | chr19:43939545-43993377 |
| Status | Predicted | Prediction type | Complex |
| Estimated Inversion Size | 33,541 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr19:43939545-43957215 |
| Ancestral orientation | NA | Breakpoint 2 | chr19:43970463-43993377 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr19:43956215-43956215 | Breakpoint 2 | chr19:43971463-43971463 | ||||
| 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 | chr19:43939545-43956374 | Breakpoint 2 | chr19:43973835-43993377 | ||||||||||||||||||||
| D/C Score | 2.26 | Disc. Support Prob. | 1 | ||||||||||||||||||||
| Support | 78 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr19:43939545-43957215 | Breakpoint 2 | chr19:43970463-43993377 | |||||||||||||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | |||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 11.76 | GC content | 0.34 | Stability | 1.79 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr19:43951811-43957758 | 5,948 | chr19:43969364-43975870 | 6,507 | 0.954 | 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
