esv3826687
- 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:93,672
- 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: 313 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 313 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3826687 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 154,165,792 | 154,259,463 |
| esv3826687 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 155,022,305 | 155,115,976 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv17917975 | copy number loss | HG01762 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,189 |
| essv17917976 | copy number gain | HG02283 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,207 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv17917975 | Remapped | Perfect | NC_000002.12:g.154 165792_154259463de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 154,165,792 | 154,259,463 |
| essv17917976 | Remapped | Perfect | NC_000002.12:g.154 165792_154259463du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 154,165,792 | 154,259,463 |
| essv17917975 | Submitted genomic | NC_000002.11:g.155 022305_155115976de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 155,022,305 | 155,115,976 | ||
| essv17917976 | Submitted genomic | NC_000002.11:g.155 022305_155115976du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 155,022,305 | 155,115,976 |