esv3872848
- 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:272,422
- 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: 905 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 905 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3872848 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 45,956,714 (-36, +36) | 46,229,135 (-36, +36) |
| esv3872848 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 46,425,917 (-36, +36) | 46,698,338 (-36, +36) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv23465841 | deletion | HG00369 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,615 |
| essv23465842 | deletion | HG02491 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,369 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv23465841 | Remapped | Perfect | NC_000014.9:g.(459 56678_45956750)_(4 6229099_46229171)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,956,714 (-36, +36) | 46,229,135 (-36, +36) |
| essv23465842 | Remapped | Perfect | NC_000014.9:g.(459 56678_45956750)_(4 6229099_46229171)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,956,714 (-36, +36) | 46,229,135 (-36, +36) |
| essv23465841 | Submitted genomic | NC_000014.8:g.(464 25881_46425953)_(4 6698302_46698374)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 46,425,917 (-36, +36) | 46,698,338 (-36, +36) | ||
| essv23465842 | Submitted genomic | NC_000014.8:g.(464 25881_46425953)_(4 6698302_46698374)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 46,425,917 (-36, +36) | 46,698,338 (-36, +36) |