esv3603249
- 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:213,507
- 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: 908 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 908 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3603249 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 175,242,831 | 175,456,337 |
| esv3603249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 176,163,982 | 176,377,488 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv11716390 | duplication | SAMN00004649 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,793 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv11716390 | Remapped | Perfect | NC_000004.12:g.175 242831_175456337du p | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 175,242,831 | 175,456,337 |
| essv11716390 | Submitted genomic | NC_000004.11:g.176 163982_176377488du p | GRCh37 (hg19) | NC_000004.11 | Chr4 | 176,163,982 | 176,377,488 |