esv3646725
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,292
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 256 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3646725 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 25,936,719 (-106, +0) | 25,940,010 (-0, +97) |
| esv3646725 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 27,309,033 (-106, +0) | 27,312,324 (-0, +97) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16297418 | deletion | SAMN01761580 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,831 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16297418 | Remapped | Perfect | NC_000021.9:g.(259 36613_25936719)_(2 5940010_25940107)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 25,936,719 (-106, +0) | 25,940,010 (-0, +97) |
| essv16297418 | Submitted genomic | NC_000021.8:g.(273 08927_27309033)_(2 7312324_27312421)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,309,033 (-106, +0) | 27,312,324 (-0, +97) |