esv3824227
- 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:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,006
- 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: 231 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3824227 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,262,391 (-5, +6) | 50,278,396 (-5, +6) |
| esv3824227 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 50,489,529 (-5, +6) | 50,505,534 (-5, +6) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv17655162 | deletion | HG01142 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,782 |
| essv17655163 | deletion | HG01281 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,331 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv17655162 | Remapped | Perfect | NC_000002.12:g.(50 262386_50262397)_( 50278391_50278402) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,262,391 (-5, +6) | 50,278,396 (-5, +6) |
| essv17655163 | Remapped | Perfect | NC_000002.12:g.(50 262386_50262397)_( 50278391_50278402) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,262,391 (-5, +6) | 50,278,396 (-5, +6) |
| essv17655162 | Submitted genomic | NC_000002.11:g.(50 489524_50489535)_( 50505529_50505540) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 50,489,529 (-5, +6) | 50,505,534 (-5, +6) | ||
| essv17655163 | Submitted genomic | NC_000002.11:g.(50 489524_50489535)_( 50505529_50505540) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 50,489,529 (-5, +6) | 50,505,534 (-5, +6) |