esv3640696
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,294
- 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: 158 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3640696 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 47,304,736 (-150, +150) | 47,307,029 (-150, +150) |
| esv3640696 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 45,382,102 (-150, +150) | 45,384,395 (-150, +150) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv15686262 | deletion | SAMN01036739 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,952 |
| essv15686263 | deletion | SAMN01761248 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv15686262 | Remapped | Perfect | NC_000017.11:g.(47 304586_47304886)_( 47306879_47307179) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 47,304,736 (-150, +150) | 47,307,029 (-150, +150) |
| essv15686263 | Remapped | Perfect | NC_000017.11:g.(47 304586_47304886)_( 47306879_47307179) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 47,304,736 (-150, +150) | 47,307,029 (-150, +150) |
| essv15686262 | Submitted genomic | NC_000017.10:g.(45 381952_45382252)_( 45384245_45384545) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 45,382,102 (-150, +150) | 45,384,395 (-150, +150) | ||
| essv15686263 | Submitted genomic | NC_000017.10:g.(45 381952_45382252)_( 45384245_45384545) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 45,382,102 (-150, +150) | 45,384,395 (-150, +150) |