esv3856576
- 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:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:330,904
- 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: 3997 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 4001 SVs from 103 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3856576 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) |
esv3856576 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv21478712 | deletion | HG01812 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,403 |
essv21478713 | deletion | HG03773 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,605 |
essv21478714 | deletion | NA18610 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,407 |
essv21478715 | deletion | NA18939 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,322 |
essv21478716 | deletion | NA19222 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,939 |
essv21478717 | deletion | NA21091 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,362 |
essv21478718 | deletion | NA21141 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,407 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv21478712 | Remapped | Perfect | NC_000009.12:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) |
essv21478713 | Remapped | Perfect | NC_000009.12:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) |
essv21478714 | Remapped | Perfect | NC_000009.12:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) |
essv21478715 | Remapped | Perfect | NC_000009.12:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) |
essv21478716 | Remapped | Perfect | NC_000009.12:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) |
essv21478717 | Remapped | Perfect | NC_000009.12:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) |
essv21478718 | Remapped | Perfect | NC_000009.12:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) |
essv21478712 | Submitted genomic | NC_000009.11:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) | ||
essv21478713 | Submitted genomic | NC_000009.11:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) | ||
essv21478714 | Submitted genomic | NC_000009.11:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) | ||
essv21478715 | Submitted genomic | NC_000009.11:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) | ||
essv21478716 | Submitted genomic | NC_000009.11:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) | ||
essv21478717 | Submitted genomic | NC_000009.11:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) | ||
essv21478718 | Submitted genomic | NC_000009.11:g.(11 749067_11750567)_( 12080470_12081970) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,750,067 (-1000, +500) | 12,080,970 (-500, +1000) |