esv3635238
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:128,255
- 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: 477 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 477 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3635238 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 86,785,180 | 86,913,434 |
| esv3635238 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 87,251,524 | 87,379,778 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv15091373 | copy number loss | SAMN01090817 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,060 |
| essv15091374 | copy number loss | SAMN00001159 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,209 |
| essv15091375 | copy number loss | SAMN00001177 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,780 |
| essv15091376 | copy number gain | SAMN00797021 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,011 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv15091373 | Remapped | Perfect | NC_000014.9:g.8678 5180_86913434del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 86,785,180 | 86,913,434 |
| essv15091374 | Remapped | Perfect | NC_000014.9:g.8678 5180_86913434del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 86,785,180 | 86,913,434 |
| essv15091375 | Remapped | Perfect | NC_000014.9:g.8678 5180_86913434del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 86,785,180 | 86,913,434 |
| essv15091376 | Remapped | Perfect | NC_000014.9:g.8678 5180_86913434dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 86,785,180 | 86,913,434 |
| essv15091373 | Submitted genomic | NC_000014.8:g.8725 1524_87379778del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 87,251,524 | 87,379,778 | ||
| essv15091374 | Submitted genomic | NC_000014.8:g.8725 1524_87379778del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 87,251,524 | 87,379,778 | ||
| essv15091375 | Submitted genomic | NC_000014.8:g.8725 1524_87379778del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 87,251,524 | 87,379,778 | ||
| essv15091376 | Submitted genomic | NC_000014.8:g.8725 1524_87379778dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 87,251,524 | 87,379,778 |