esv3637039
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:128,198
- 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: 506 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 506 SVs from 73 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3637039 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 81,666,909 | 81,795,106 |
esv3637039 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 81,959,250 | 82,087,447 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv15306800 | copy number loss | SAMN00001064 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,799 |
essv15306801 | copy number gain | SAMN00249949 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,647 |
essv15306802 | copy number gain | SAMN01096765 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,584 |
essv15306803 | copy number gain | SAMN00797021 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,011 |
essv15306804 | copy number gain | SAMN00801099 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,842 |
essv15306805 | copy number gain | SAMN00801126 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,868 |
essv15306806 | copy number gain | SAMN00001263 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,919 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv15306800 | Remapped | Perfect | NC_000015.10:g.816 66909_81795106del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 81,666,909 | 81,795,106 |
essv15306801 | Remapped | Perfect | NC_000015.10:g.816 66909_81795106dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 81,666,909 | 81,795,106 |
essv15306802 | Remapped | Perfect | NC_000015.10:g.816 66909_81795106dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 81,666,909 | 81,795,106 |
essv15306803 | Remapped | Perfect | NC_000015.10:g.816 66909_81795106dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 81,666,909 | 81,795,106 |
essv15306804 | Remapped | Perfect | NC_000015.10:g.816 66909_81795106dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 81,666,909 | 81,795,106 |
essv15306805 | Remapped | Perfect | NC_000015.10:g.816 66909_81795106dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 81,666,909 | 81,795,106 |
essv15306806 | Remapped | Perfect | NC_000015.10:g.816 66909_81795106dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 81,666,909 | 81,795,106 |
essv15306800 | Submitted genomic | NC_000015.9:g.8195 9250_82087447del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 81,959,250 | 82,087,447 | ||
essv15306801 | Submitted genomic | NC_000015.9:g.8195 9250_82087447dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 81,959,250 | 82,087,447 | ||
essv15306802 | Submitted genomic | NC_000015.9:g.8195 9250_82087447dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 81,959,250 | 82,087,447 | ||
essv15306803 | Submitted genomic | NC_000015.9:g.8195 9250_82087447dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 81,959,250 | 82,087,447 | ||
essv15306804 | Submitted genomic | NC_000015.9:g.8195 9250_82087447dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 81,959,250 | 82,087,447 | ||
essv15306805 | Submitted genomic | NC_000015.9:g.8195 9250_82087447dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 81,959,250 | 82,087,447 | ||
essv15306806 | Submitted genomic | NC_000015.9:g.8195 9250_82087447dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 81,959,250 | 82,087,447 |