esv3847945
- 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:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:77,523
- 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: 625 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 625 SVs from 66 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3847945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 3,344,546 | 3,422,068 |
| esv3847945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 3,384,178 | 3,461,700 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv20521400 | copy number loss | NA19222 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,939 |
| essv20521401 | copy number gain | NA18560 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,336 |
| essv20521402 | copy number gain | NA19309 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,748 |
| essv20521403 | copy number gain | NA19334 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,034 |
| essv20521404 | copy number gain | NA19471 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,678 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv20521400 | Remapped | Perfect | NC_000007.14:g.334 4546_3422068del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 3,344,546 | 3,422,068 |
| essv20521401 | Remapped | Perfect | NC_000007.14:g.334 4546_3422068dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 3,344,546 | 3,422,068 |
| essv20521402 | Remapped | Perfect | NC_000007.14:g.334 4546_3422068dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 3,344,546 | 3,422,068 |
| essv20521403 | Remapped | Perfect | NC_000007.14:g.334 4546_3422068dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 3,344,546 | 3,422,068 |
| essv20521404 | Remapped | Perfect | NC_000007.14:g.334 4546_3422068dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 3,344,546 | 3,422,068 |
| essv20521400 | Submitted genomic | NC_000007.13:g.338 4178_3461700del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 3,384,178 | 3,461,700 | ||
| essv20521401 | Submitted genomic | NC_000007.13:g.338 4178_3461700dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 3,384,178 | 3,461,700 | ||
| essv20521402 | Submitted genomic | NC_000007.13:g.338 4178_3461700dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 3,384,178 | 3,461,700 | ||
| essv20521403 | Submitted genomic | NC_000007.13:g.338 4178_3461700dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 3,384,178 | 3,461,700 | ||
| essv20521404 | Submitted genomic | NC_000007.13:g.338 4178_3461700dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 3,384,178 | 3,461,700 |