esv3856575
- 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:283,917
- 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: 3604 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 3608 SVs from 98 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3856575 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) |
esv3856575 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv21478705 | deletion | HG00123 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,289 |
essv21478706 | deletion | HG01506 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,694 |
essv21478707 | deletion | HG03773 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,605 |
essv21478708 | deletion | NA18610 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,407 |
essv21478709 | deletion | NA18747 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,391 |
essv21478710 | deletion | NA18939 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,322 |
essv21478711 | deletion | NA21091 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,362 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv21478705 | Remapped | Perfect | NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) |
essv21478706 | Remapped | Perfect | NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) |
essv21478707 | Remapped | Perfect | NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) |
essv21478708 | Remapped | Perfect | NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) |
essv21478709 | Remapped | Perfect | NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) |
essv21478710 | Remapped | Perfect | NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) |
essv21478711 | Remapped | Perfect | NC_000009.12:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) |
essv21478705 | Submitted genomic | NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) | ||
essv21478706 | Submitted genomic | NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) | ||
essv21478707 | Submitted genomic | NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) | ||
essv21478708 | Submitted genomic | NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) | ||
essv21478709 | Submitted genomic | NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) | ||
essv21478710 | Submitted genomic | NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) | ||
essv21478711 | Submitted genomic | NC_000009.11:g.(11 731199_11732699)_( 12015615_12017115) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,732,199 (-1000, +500) | 12,016,115 (-500, +1000) |