esv3872929
- 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:46,814
- 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: 241 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3872929 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 48,608,332 (-500, +0) | 48,655,145 (-0, +500) |
| esv3872929 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 49,077,535 (-500, +0) | 49,124,348 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv23475359 | deletion | HG02278 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,119 |
| essv23475360 | deletion | NA18519 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,117 |
| essv23475361 | deletion | NA18924 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,028 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv23475359 | Remapped | Perfect | NC_000014.9:g.(486 07832_48608332)_(4 8655145_48655645)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 48,608,332 (-500, +0) | 48,655,145 (-0, +500) |
| essv23475360 | Remapped | Perfect | NC_000014.9:g.(486 07832_48608332)_(4 8655145_48655645)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 48,608,332 (-500, +0) | 48,655,145 (-0, +500) |
| essv23475361 | Remapped | Perfect | NC_000014.9:g.(486 07832_48608332)_(4 8655145_48655645)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 48,608,332 (-500, +0) | 48,655,145 (-0, +500) |
| essv23475359 | Submitted genomic | NC_000014.8:g.(490 77035_49077535)_(4 9124348_49124848)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 49,077,535 (-500, +0) | 49,124,348 (-0, +500) | ||
| essv23475360 | Submitted genomic | NC_000014.8:g.(490 77035_49077535)_(4 9124348_49124848)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 49,077,535 (-500, +0) | 49,124,348 (-0, +500) | ||
| essv23475361 | Submitted genomic | NC_000014.8:g.(490 77035_49077535)_(4 9124348_49124848)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 49,077,535 (-500, +0) | 49,124,348 (-0, +500) |