esv3588454
- 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:120,553
- 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: 443 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 443 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3588454 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 195,924,706 | 196,045,258 |
| esv3588454 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 195,893,836 | 196,014,388 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10246743 | copy number loss | SAMN00000475 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,336 |
| essv10246744 | copy number gain | SAMN00001652 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,451 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10246743 | Remapped | Perfect | NC_000001.11:g.195 924706_196045258de l | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 195,924,706 | 196,045,258 |
| essv10246744 | Remapped | Perfect | NC_000001.11:g.195 924706_196045258du p | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 195,924,706 | 196,045,258 |
| essv10246743 | Submitted genomic | NC_000001.10:g.195 893836_196014388de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 195,893,836 | 196,014,388 | ||
| essv10246744 | Submitted genomic | NC_000001.10:g.195 893836_196014388du p | GRCh37 (hg19) | NC_000001.10 | Chr1 | 195,893,836 | 196,014,388 |