esv3842187
- 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:11,277
- 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: 183 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3842187 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 129,286,851 (-500, +0) | 129,298,127 (-0, +500) |
| esv3842187 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 128,622,544 (-500, +0) | 128,633,820 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv19753338 | deletion | HG02817 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,626 |
| essv19753339 | deletion | NA19108 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,010 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv19753338 | Remapped | Perfect | NC_000005.10:g.(12 9286351_129286851) _(129298127_129298 627)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 129,286,851 (-500, +0) | 129,298,127 (-0, +500) |
| essv19753339 | Remapped | Perfect | NC_000005.10:g.(12 9286351_129286851) _(129298127_129298 627)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 129,286,851 (-500, +0) | 129,298,127 (-0, +500) |
| essv19753338 | Submitted genomic | NC_000005.9:g.(128 622044_128622544)_ (128633820_1286343 20)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 128,622,544 (-500, +0) | 128,633,820 (-0, +500) | ||
| essv19753339 | Submitted genomic | NC_000005.9:g.(128 622044_128622544)_ (128633820_1286343 20)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 128,622,544 (-500, +0) | 128,633,820 (-0, +500) |