esv3590920
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:137,027
- 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: 514 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 514 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3590920 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 57,235,471 | 57,372,497 |
| esv3590920 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 57,462,606 | 57,599,632 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10517228 | copy number loss | SAMN00797406 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,747 |
| essv10517229 | copy number loss | SAMN00001263 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,919 |
| essv10517230 | copy number gain | SAMN01761398 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,294 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10517228 | Remapped | Perfect | NC_000002.12:g.572 35471_57372497del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 57,235,471 | 57,372,497 |
| essv10517229 | Remapped | Perfect | NC_000002.12:g.572 35471_57372497del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 57,235,471 | 57,372,497 |
| essv10517230 | Remapped | Perfect | NC_000002.12:g.572 35471_57372497dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 57,235,471 | 57,372,497 |
| essv10517228 | Submitted genomic | NC_000002.11:g.574 62606_57599632del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 57,462,606 | 57,599,632 | ||
| essv10517229 | Submitted genomic | NC_000002.11:g.574 62606_57599632del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 57,462,606 | 57,599,632 | ||
| essv10517230 | Submitted genomic | NC_000002.11:g.574 62606_57599632dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 57,462,606 | 57,599,632 |