esv2662223
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,251
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 940 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 940 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2662223 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 186,959,348 | 186,968,598 |
| esv2662223 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 187,880,502 | 187,889,752 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5424216 | deletion | SAMN00001580 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,552 |
| essv5487327 | deletion | SAMN00001126 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv5958342 | deletion | SAMN00001697 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
| essv5989795 | deletion | SAMN00001193 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,179 |
| essv6507955 | deletion | SAMN00007734 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,582 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5424216 | Remapped | Perfect | NC_000004.12:g.186 959348_186968598de lCT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 186,959,348 | 186,968,598 |
| essv5487327 | Remapped | Perfect | NC_000004.12:g.186 959348_186968598de lCT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 186,959,348 | 186,968,598 |
| essv5958342 | Remapped | Perfect | NC_000004.12:g.186 959348_186968598de lCT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 186,959,348 | 186,968,598 |
| essv5989795 | Remapped | Perfect | NC_000004.12:g.186 959348_186968598de lCT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 186,959,348 | 186,968,598 |
| essv6507955 | Remapped | Perfect | NC_000004.12:g.186 959348_186968598de lCT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 186,959,348 | 186,968,598 |
| essv5424216 | Submitted genomic | NC_000004.11:g.187 880502_187889752de lCT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 187,880,502 | 187,889,752 | ||
| essv5487327 | Submitted genomic | NC_000004.11:g.187 880502_187889752de lCT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 187,880,502 | 187,889,752 | ||
| essv5958342 | Submitted genomic | NC_000004.11:g.187 880502_187889752de lCT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 187,880,502 | 187,889,752 | ||
| essv5989795 | Submitted genomic | NC_000004.11:g.187 880502_187889752de lCT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 187,880,502 | 187,889,752 | ||
| essv6507955 | Submitted genomic | NC_000004.11:g.187 880502_187889752de lCT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 187,880,502 | 187,889,752 |