esv3628140
- 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:313,614
- 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: 1021 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1021 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3628140 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 133,084,832 | 133,398,445 |
| esv3628140 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 132,954,727 | 133,268,340 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv14318161 | duplication | SAMN00001282 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,703 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv14318161 | Remapped | Perfect | NC_000011.10:g.133 084832_133398445du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 133,084,832 | 133,398,445 |
| essv14318161 | Submitted genomic | NC_000011.9:g.1329 54727_133268340dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 132,954,727 | 133,268,340 |