esv3629354
- 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:58,264
- 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: 260 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3629354 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 43,829,773 (-42, +43) | 43,888,036 (-42, +43) |
| esv3629354 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 44,223,576 (-42, +43) | 44,281,839 (-42, +43) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv14464794 | deletion | SAMN00006349 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,741 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv14464794 | Remapped | Perfect | NC_000012.12:g.(43 829731_43829816)_( 43887994_43888079) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 43,829,773 (-42, +43) | 43,888,036 (-42, +43) |
| essv14464794 | Submitted genomic | NC_000012.11:g.(44 223534_44223619)_( 44281797_44281882) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 44,223,576 (-42, +43) | 44,281,839 (-42, +43) |