esv3586036
- 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:15,684
- 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: 167 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3586036 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 51,485,849 (-1000, +500) | 51,501,532 (-500, +1000) |
| esv3586036 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 51,951,521 (-1000, +500) | 51,967,204 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv9929248 | deletion | SAMN00009092 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,808 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9929248 | Remapped | Perfect | NC_000001.11:g.(51 484849_51486349)_( 51501032_51502532) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 51,485,849 (-1000, +500) | 51,501,532 (-500, +1000) |
| essv9929248 | Submitted genomic | NC_000001.10:g.(51 950521_51952021)_( 51966704_51968204) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 51,951,521 (-1000, +500) | 51,967,204 (-500, +1000) |