esv3844606
- 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:11,010
- 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: 133 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3844606 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 45,825,035 (-19, +19) | 45,836,044 (-19, +19) |
| esv3844606 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 45,792,772 (-19, +19) | 45,803,781 (-19, +19) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv20128742 | deletion | NA20317 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,181 |
| essv20128743 | deletion | NA20318 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,111 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv20128742 | Remapped | Perfect | NC_000006.12:g.(45 825016_45825054)_( 45836025_45836063) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 45,825,035 (-19, +19) | 45,836,044 (-19, +19) |
| essv20128743 | Remapped | Perfect | NC_000006.12:g.(45 825016_45825054)_( 45836025_45836063) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 45,825,035 (-19, +19) | 45,836,044 (-19, +19) |
| essv20128742 | Submitted genomic | NC_000006.11:g.(45 792753_45792791)_( 45803762_45803800) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 45,792,772 (-19, +19) | 45,803,781 (-19, +19) | ||
| essv20128743 | Submitted genomic | NC_000006.11:g.(45 792753_45792791)_( 45803762_45803800) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 45,792,772 (-19, +19) | 45,803,781 (-19, +19) |