esv3826514
- 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:19,941
- 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: 295 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 295 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3826514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 148,107,949 (-29, +30) | 148,127,889 (-29, +30) |
| esv3826514 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 148,865,518 (-29, +30) | 148,885,458 (-29, +30) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv17893882 | deletion | HG02113 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,108 |
| essv17893883 | deletion | HG02760 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,040 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv17893882 | Remapped | Perfect | NC_000002.12:g.(14 8107920_148107979) _(148127860_148127 919)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 148,107,949 (-29, +30) | 148,127,889 (-29, +30) |
| essv17893883 | Remapped | Perfect | NC_000002.12:g.(14 8107920_148107979) _(148127860_148127 919)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 148,107,949 (-29, +30) | 148,127,889 (-29, +30) |
| essv17893882 | Submitted genomic | NC_000002.11:g.(14 8865489_148865548) _(148885429_148885 488)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 148,865,518 (-29, +30) | 148,885,458 (-29, +30) | ||
| essv17893883 | Submitted genomic | NC_000002.11:g.(14 8865489_148865548) _(148885429_148885 488)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 148,865,518 (-29, +30) | 148,885,458 (-29, +30) |