| Accession | HsInv1123 | Region of the inversion | chr3:188609226-188634298 |
| Status | Predicted | Prediction type | Complex |
| Estimated Inversion Size | 15,073 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr3:188609226-188619226 |
| Ancestral orientation | NA | Breakpoint 2 | chr3:188624298-188634298 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||||||||||||
| Method | Long-read sequencing | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr3:188614226-188614226 | Breakpoint 2 | chr3:188629298-188629298 | ||||
| Individuals |
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| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr3:188618642-188618642 | Breakpoint 2 | chr3:188626799-188626799 | ||||
| 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 | chr3:188585897-188615599 | Breakpoint 2 | chr3:188626457-188652520 | ||||||||||||||||||||
| D/C Score | 1.04 | Disc. Support Prob. | 0.99886 | ||||||||||||||||||||
| Support | 40 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr3:188609226-188619226 | Breakpoint 2 | chr3:188624298-188634298 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.26 | GC content | 0.46 | Stability | 1.92 |
+ 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
HsInv0261 and HsInv0053 merge into HsInv1123
- 2017-09-29 00:00:00
| Breakpoint 1 | chr3:188609226-188619226 | Breakpoint 2 | chr3:188624298-188634298 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2016-11-28 16:52:44
| Breakpoint 1 | chr3:188585897-188619642 | Breakpoint 2 | chr3:188625799-188652520 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||
| Definition method | Default informatic definition | ||
