esv3852828
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:93,409
- 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: 805 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 805 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3852828 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 13,888,128 | 13,981,536 |
| esv3852828 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 13,745,637 | 13,839,045 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21050464 | copy number loss | NA19428 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,082 |
| essv21050465 | copy number gain | HG01776 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,092 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21050464 | Remapped | Perfect | NC_000008.11:g.138 88128_13981536del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 13,888,128 | 13,981,536 |
| essv21050465 | Remapped | Perfect | NC_000008.11:g.138 88128_13981536dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 13,888,128 | 13,981,536 |
| essv21050464 | Submitted genomic | NC_000008.10:g.137 45637_13839045del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 13,745,637 | 13,839,045 | ||
| essv21050465 | Submitted genomic | NC_000008.10:g.137 45637_13839045dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 13,745,637 | 13,839,045 |