esv3609358
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:219,811
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 947 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 514 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 947 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3609358 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 67,522,241 | 67,742,051 |
| esv3609358 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_009646200.1 | Chr6|NW_00 9646200.1 | 1 | 214,291 |
| esv3609358 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 68,232,134 | 68,451,944 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12400978 | deletion | SAMN00630197 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,192 |
| essv12400979 | deletion | SAMN00630226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,053 |
| essv12400980 | deletion | SAMN01761226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,196 |
| essv12400981 | deletion | SAMN01090891 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,001 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12400978 | Remapped | Good | NW_009646200.1:g.1 _214291del | GRCh38.p12 | Second Pass | NW_009646200.1 | Chr6|NW_00 9646200.1 | 1 | 214,291 |
| essv12400979 | Remapped | Good | NW_009646200.1:g.1 _214291del | GRCh38.p12 | Second Pass | NW_009646200.1 | Chr6|NW_00 9646200.1 | 1 | 214,291 |
| essv12400980 | Remapped | Good | NW_009646200.1:g.1 _214291del | GRCh38.p12 | Second Pass | NW_009646200.1 | Chr6|NW_00 9646200.1 | 1 | 214,291 |
| essv12400981 | Remapped | Good | NW_009646200.1:g.1 _214291del | GRCh38.p12 | Second Pass | NW_009646200.1 | Chr6|NW_00 9646200.1 | 1 | 214,291 |
| essv12400978 | Remapped | Perfect | NC_000006.12:g.675 22241_67742051del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 67,522,241 | 67,742,051 |
| essv12400979 | Remapped | Perfect | NC_000006.12:g.675 22241_67742051del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 67,522,241 | 67,742,051 |
| essv12400980 | Remapped | Perfect | NC_000006.12:g.675 22241_67742051del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 67,522,241 | 67,742,051 |
| essv12400981 | Remapped | Perfect | NC_000006.12:g.675 22241_67742051del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 67,522,241 | 67,742,051 |
| essv12400978 | Submitted genomic | NC_000006.11:g.682 32134_68451944del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 68,232,134 | 68,451,944 | ||
| essv12400979 | Submitted genomic | NC_000006.11:g.682 32134_68451944del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 68,232,134 | 68,451,944 | ||
| essv12400980 | Submitted genomic | NC_000006.11:g.682 32134_68451944del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 68,232,134 | 68,451,944 | ||
| essv12400981 | Submitted genomic | NC_000006.11:g.682 32134_68451944del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 68,232,134 | 68,451,944 |