esv3623355
- 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:78,657
- 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: 361 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 361 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3623355 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 55,691,033 (-500, +0) | 55,769,689 (-0, +500) |
| esv3623355 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 57,450,793 (-500, +0) | 57,529,449 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13821475 | deletion | SAMN01090775 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,054 |
| essv13821476 | deletion | SAMN01090803 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,000 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13821475 | Remapped | Perfect | NC_000010.11:g.(55 690533_55691033)_( 55769689_55770189) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 55,691,033 (-500, +0) | 55,769,689 (-0, +500) |
| essv13821476 | Remapped | Perfect | NC_000010.11:g.(55 690533_55691033)_( 55769689_55770189) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 55,691,033 (-500, +0) | 55,769,689 (-0, +500) |
| essv13821475 | Submitted genomic | NC_000010.10:g.(57 450293_57450793)_( 57529449_57529949) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 57,450,793 (-500, +0) | 57,529,449 (-0, +500) | ||
| essv13821476 | Submitted genomic | NC_000010.10:g.(57 450293_57450793)_( 57529449_57529949) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 57,450,793 (-500, +0) | 57,529,449 (-0, +500) |