esv3623990
- 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:19,145
- 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: 269 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3623990 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 82,182,080 (-15, +15) | 82,201,224 (-15, +15) |
| esv3623990 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 83,941,836 (-15, +15) | 83,960,980 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13877613 | deletion | SAMN00004644 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,699 |
| essv13877614 | deletion | SAMN00009107 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,646 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13877613 | Remapped | Perfect | NC_000010.11:g.(82 182065_82182095)_( 82201209_82201239) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 82,182,080 (-15, +15) | 82,201,224 (-15, +15) |
| essv13877614 | Remapped | Perfect | NC_000010.11:g.(82 182065_82182095)_( 82201209_82201239) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 82,182,080 (-15, +15) | 82,201,224 (-15, +15) |
| essv13877613 | Submitted genomic | NC_000010.10:g.(83 941821_83941851)_( 83960965_83960995) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 83,941,836 (-15, +15) | 83,960,980 (-15, +15) | ||
| essv13877614 | Submitted genomic | NC_000010.10:g.(83 941821_83941851)_( 83960965_83960995) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 83,941,836 (-15, +15) | 83,960,980 (-15, +15) |