esv3869074
- 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:15,920
- 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: 184 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 184 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3869074 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 120,734,778 (-1000, +500) | 120,750,697 (-500, +1000) |
| esv3869074 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 121,172,581 (-1000, +500) | 121,188,500 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv22987154 | deletion | HG01840 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,582 |
| essv22987155 | deletion | HG02086 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,147 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv22987154 | Remapped | Perfect | NC_000012.12:g.(12 0733778_120735278) _(120750197_120751 697)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 120,734,778 (-1000, +500) | 120,750,697 (-500, +1000) |
| essv22987155 | Remapped | Perfect | NC_000012.12:g.(12 0733778_120735278) _(120750197_120751 697)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 120,734,778 (-1000, +500) | 120,750,697 (-500, +1000) |
| essv22987154 | Submitted genomic | NC_000012.11:g.(12 1171581_121173081) _(121188000_121189 500)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 121,172,581 (-1000, +500) | 121,188,500 (-500, +1000) | ||
| essv22987155 | Submitted genomic | NC_000012.11:g.(12 1171581_121173081) _(121188000_121189 500)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 121,172,581 (-1000, +500) | 121,188,500 (-500, +1000) |