esv3845238
- 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:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,300
- 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: 150 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3845238 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 70,929,963 | 70,942,262 |
esv3845238 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 71,639,666 | 71,651,965 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv20212001 | copy number loss | HG01872 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,379 |
essv20212002 | copy number loss | NA19089 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,631 |
essv20212003 | copy number gain | HG00118 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,491 |
essv20212004 | copy number gain | HG00478 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,595 |
essv20212005 | copy number gain | HG01796 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,389 |
essv20212006 | copy number gain | HG02057 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,188 |
essv20212007 | copy number gain | HG02076 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,530 |
essv20212008 | copy number gain | HG02128 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,574 |
essv20212009 | copy number gain | HG02392 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,638 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv20212001 | Remapped | Perfect | NC_000006.12:g.709 29963_70942262del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,929,963 | 70,942,262 |
essv20212002 | Remapped | Perfect | NC_000006.12:g.709 29963_70942262del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,929,963 | 70,942,262 |
essv20212003 | Remapped | Perfect | NC_000006.12:g.709 29963_70942262dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,929,963 | 70,942,262 |
essv20212004 | Remapped | Perfect | NC_000006.12:g.709 29963_70942262dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,929,963 | 70,942,262 |
essv20212005 | Remapped | Perfect | NC_000006.12:g.709 29963_70942262dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,929,963 | 70,942,262 |
essv20212006 | Remapped | Perfect | NC_000006.12:g.709 29963_70942262dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,929,963 | 70,942,262 |
essv20212007 | Remapped | Perfect | NC_000006.12:g.709 29963_70942262dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,929,963 | 70,942,262 |
essv20212008 | Remapped | Perfect | NC_000006.12:g.709 29963_70942262dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,929,963 | 70,942,262 |
essv20212009 | Remapped | Perfect | NC_000006.12:g.709 29963_70942262dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,929,963 | 70,942,262 |
essv20212001 | Submitted genomic | NC_000006.11:g.716 39666_71651965del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 71,639,666 | 71,651,965 | ||
essv20212002 | Submitted genomic | NC_000006.11:g.716 39666_71651965del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 71,639,666 | 71,651,965 | ||
essv20212003 | Submitted genomic | NC_000006.11:g.716 39666_71651965dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 71,639,666 | 71,651,965 | ||
essv20212004 | Submitted genomic | NC_000006.11:g.716 39666_71651965dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 71,639,666 | 71,651,965 | ||
essv20212005 | Submitted genomic | NC_000006.11:g.716 39666_71651965dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 71,639,666 | 71,651,965 | ||
essv20212006 | Submitted genomic | NC_000006.11:g.716 39666_71651965dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 71,639,666 | 71,651,965 | ||
essv20212007 | Submitted genomic | NC_000006.11:g.716 39666_71651965dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 71,639,666 | 71,651,965 | ||
essv20212008 | Submitted genomic | NC_000006.11:g.716 39666_71651965dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 71,639,666 | 71,651,965 | ||
essv20212009 | Submitted genomic | NC_000006.11:g.716 39666_71651965dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 71,639,666 | 71,651,965 |