esv3869473
- 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:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,692
- 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: 276 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3869473 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 132,309,887 | 132,321,578 |
| esv3869473 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 132,886,473 | 132,898,164 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv23024620 | copy number loss | HG00628 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,333 |
| essv23024621 | copy number loss | NA12272 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,285 |
| essv23024622 | copy number gain | HG02277 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,278 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv23024620 | Remapped | Perfect | NC_000012.12:g.132 309887_132321578de l | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,309,887 | 132,321,578 |
| essv23024621 | Remapped | Perfect | NC_000012.12:g.132 309887_132321578de l | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,309,887 | 132,321,578 |
| essv23024622 | Remapped | Perfect | NC_000012.12:g.132 309887_132321578du p | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,309,887 | 132,321,578 |
| essv23024620 | Submitted genomic | NC_000012.11:g.132 886473_132898164de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,886,473 | 132,898,164 | ||
| essv23024621 | Submitted genomic | NC_000012.11:g.132 886473_132898164de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,886,473 | 132,898,164 | ||
| essv23024622 | Submitted genomic | NC_000012.11:g.132 886473_132898164du p | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,886,473 | 132,898,164 |