esv3860964
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:232,380
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 2179 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2179 SVs from 88 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3860964 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 66,410,680 (-3, +3) | 66,643,059 (-3, +3) |
esv3860964 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,170,438 (-3, +3) | 68,402,817 (-3, +3) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv22025534 | deletion | HG00557 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,388 |
essv22025535 | deletion | HG01865 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,541 |
essv22025536 | deletion | NA18616 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,280 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv22025534 | Remapped | Perfect | NC_000010.11:g.(66 410677_66410683)_( 66643056_66643062) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,410,680 (-3, +3) | 66,643,059 (-3, +3) |
essv22025535 | Remapped | Perfect | NC_000010.11:g.(66 410677_66410683)_( 66643056_66643062) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,410,680 (-3, +3) | 66,643,059 (-3, +3) |
essv22025536 | Remapped | Perfect | NC_000010.11:g.(66 410677_66410683)_( 66643056_66643062) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,410,680 (-3, +3) | 66,643,059 (-3, +3) |
essv22025534 | Submitted genomic | NC_000010.10:g.(68 170435_68170441)_( 68402814_68402820) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,170,438 (-3, +3) | 68,402,817 (-3, +3) | ||
essv22025535 | Submitted genomic | NC_000010.10:g.(68 170435_68170441)_( 68402814_68402820) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,170,438 (-3, +3) | 68,402,817 (-3, +3) | ||
essv22025536 | Submitted genomic | NC_000010.10:g.(68 170435_68170441)_( 68402814_68402820) del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,170,438 (-3, +3) | 68,402,817 (-3, +3) |