esv3887535
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34,352
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 270 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3887535 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 39,203,473 (-268, +268) | 39,237,824 (-268, +268) |
| esv3887535 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 39,599,478 (-268, +268) | 39,633,829 (-268, +268) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25090408 | inversion | HG02768 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,980 |
| essv25090409 | inversion | HG02870 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,136 |
| essv25090410 | inversion | NA20809 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,667 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25090408 | Remapped | Perfect | NC_000022.11:g.(39 203205_39203741)_( 39237556_39238092) inv | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 39,203,473 (-268, +268) | 39,237,824 (-268, +268) |
| essv25090409 | Remapped | Perfect | NC_000022.11:g.(39 203205_39203741)_( 39237556_39238092) inv | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 39,203,473 (-268, +268) | 39,237,824 (-268, +268) |
| essv25090410 | Remapped | Perfect | NC_000022.11:g.(39 203205_39203741)_( 39237556_39238092) inv | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 39,203,473 (-268, +268) | 39,237,824 (-268, +268) |
| essv25090408 | Submitted genomic | NC_000022.10:g.(39 599210_39599746)_( 39633561_39634097) inv | GRCh37 (hg19) | NC_000022.10 | Chr22 | 39,599,478 (-268, +268) | 39,633,829 (-268, +268) | ||
| essv25090409 | Submitted genomic | NC_000022.10:g.(39 599210_39599746)_( 39633561_39634097) inv | GRCh37 (hg19) | NC_000022.10 | Chr22 | 39,599,478 (-268, +268) | 39,633,829 (-268, +268) | ||
| essv25090410 | Submitted genomic | NC_000022.10:g.(39 599210_39599746)_( 39633561_39634097) inv | GRCh37 (hg19) | NC_000022.10 | Chr22 | 39,599,478 (-268, +268) | 39,633,829 (-268, +268) |