| Accession | HsInv0616 | Region of the inversion | chr18:16759899-16779304 |
| Status | Unreliable prediction | Prediction type | Complex |
| Estimated Inversion Size | 4,715 bp | Supporting predictions | 6 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr18:16759899-16777029 |
| Ancestral orientation | NA | Breakpoint 2 | chr18:16767051-16779304 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||
| Name | |||
| Breakpoint 1 | chr18:16764899-16764899 | Breakpoint 2 | chr18:16772051-16772051 |
| Individuals | |||
| Name | |||
| Breakpoint 1 | chr18:16772029-16772029 | Breakpoint 2 | chr18:16774304-16774304 |
| Individuals | |||
| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr18:16766311-16766373 | Breakpoint 2 | chr18:16773396-16773699 | ||||
| Individuals |
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| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||
| Name | |||||||
| Breakpoint 1 | chr18:16766262-16766309 | Breakpoint 2 | chr18:16773663-16773705 | ||||
| Individuals |
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| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||
| Name | |||||||
| Breakpoint 1 | chr18:16765787-16766313 | Breakpoint 2 | chr18:16774016-16774335 | ||||
| Individuals |
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| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||
| Name | |||||||
| Breakpoint 1 | chr18:16765997-16766318 | Breakpoint 2 | chr18:16774137-16774333 | ||||
| Individuals |
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| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr18:16759899-16777029 | Breakpoint 2 | chr18:16767051-16779304 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.67 | GC content | 0.39 | Stability | 1.86 |
+ 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
- 2017-09-29 00:00:00
| Breakpoint 1 | chr18:16759899-16769899 | Breakpoint 2 | chr18:16767051-16777051 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||
- 2017-09-29 00:00:00
| Breakpoint 1 | chr18:16759899-16777029 | Breakpoint 2 | chr18:16767051-16779304 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||
- 2015-02-23 10:15:20
| Breakpoint 1 | chr18:16765718-16766387 | Breakpoint 2 | chr18:16773735-16774616 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:20
| Breakpoint 1 | chr18:16765709-16766911 | Breakpoint 2 | chr18:16773099-16774737 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
