esv3845136
- 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:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:219,811
- 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: 946 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 513 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 946 SVs from 77 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3845136 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 67,522,241 | 67,742,051 |
esv3845136 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_009646200.1 | Chr6|NW_00 9646200.1 | 1 | 214,291 |
esv3845136 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 68,232,134 | 68,451,944 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv20200657 | deletion | HG02013 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,174 |
essv20200658 | deletion | HG02339 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,743 |
essv20200659 | deletion | HG02983 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,959 |
essv20200660 | deletion | HG03196 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,938 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv20200657 | Remapped | Good | NW_009646200.1:g.1 _214291del | GRCh38.p12 | Second Pass | NW_009646200.1 | Chr6|NW_00 9646200.1 | 1 | 214,291 |
essv20200658 | Remapped | Good | NW_009646200.1:g.1 _214291del | GRCh38.p12 | Second Pass | NW_009646200.1 | Chr6|NW_00 9646200.1 | 1 | 214,291 |
essv20200659 | Remapped | Good | NW_009646200.1:g.1 _214291del | GRCh38.p12 | Second Pass | NW_009646200.1 | Chr6|NW_00 9646200.1 | 1 | 214,291 |
essv20200660 | Remapped | Good | NW_009646200.1:g.1 _214291del | GRCh38.p12 | Second Pass | NW_009646200.1 | Chr6|NW_00 9646200.1 | 1 | 214,291 |
essv20200657 | Remapped | Perfect | NC_000006.12:g.675 22241_67742051del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 67,522,241 | 67,742,051 |
essv20200658 | Remapped | Perfect | NC_000006.12:g.675 22241_67742051del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 67,522,241 | 67,742,051 |
essv20200659 | Remapped | Perfect | NC_000006.12:g.675 22241_67742051del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 67,522,241 | 67,742,051 |
essv20200660 | Remapped | Perfect | NC_000006.12:g.675 22241_67742051del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 67,522,241 | 67,742,051 |
essv20200657 | Submitted genomic | NC_000006.11:g.682 32134_68451944del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 68,232,134 | 68,451,944 | ||
essv20200658 | Submitted genomic | NC_000006.11:g.682 32134_68451944del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 68,232,134 | 68,451,944 | ||
essv20200659 | Submitted genomic | NC_000006.11:g.682 32134_68451944del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 68,232,134 | 68,451,944 | ||
essv20200660 | Submitted genomic | NC_000006.11:g.682 32134_68451944del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 68,232,134 | 68,451,944 |