esv3590802
- 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:37,090
- 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: 233 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3590802 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 52,867,647 (-30, +31) | 52,904,736 (-30, +31) |
| esv3590802 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 53,094,785 (-30, +31) | 53,131,874 (-30, +31) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10506559 | deletion | SAMN01090760 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,134 |
| essv10506560 | deletion | SAMN01096733 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,639 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10506559 | Remapped | Perfect | NC_000002.12:g.(52 867617_52867678)_( 52904706_52904767) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,867,647 (-30, +31) | 52,904,736 (-30, +31) |
| essv10506560 | Remapped | Perfect | NC_000002.12:g.(52 867617_52867678)_( 52904706_52904767) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,867,647 (-30, +31) | 52,904,736 (-30, +31) |
| essv10506559 | Submitted genomic | NC_000002.11:g.(53 094755_53094816)_( 53131844_53131905) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 53,094,785 (-30, +31) | 53,131,874 (-30, +31) | ||
| essv10506560 | Submitted genomic | NC_000002.11:g.(53 094755_53094816)_( 53131844_53131905) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 53,094,785 (-30, +31) | 53,131,874 (-30, +31) |