esv3619645
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:316,333
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 3946 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3950 SVs from 104 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3619645 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) |
esv3619645 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv13403788 | deletion | SAMN00249920 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,784 |
essv13403789 | deletion | SAMN01761586 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,954 |
essv13403790 | deletion | SAMN00000423 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,679 |
essv13403791 | deletion | SAMN00000485 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,624 |
essv13403792 | deletion | SAMN00001339 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,222 |
essv13403793 | deletion | SAMN00001155 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,979 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv13403788 | Remapped | Perfect | NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) |
essv13403789 | Remapped | Perfect | NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) |
essv13403790 | Remapped | Perfect | NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) |
essv13403791 | Remapped | Perfect | NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) |
essv13403792 | Remapped | Perfect | NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) |
essv13403793 | Remapped | Perfect | NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) |
essv13403788 | Submitted genomic | NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) | ||
essv13403789 | Submitted genomic | NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) | ||
essv13403790 | Submitted genomic | NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) | ||
essv13403791 | Submitted genomic | NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) | ||
essv13403792 | Submitted genomic | NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) | ||
essv13403793 | Submitted genomic | NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,868,685 (-20, +20) | 12,185,017 (-20, +20) |