esv3633612
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,899
- 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: 507 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 510 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3633612 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 113,505,580 (-500, +0) | 113,522,478 (-0, +500) |
| esv3633612 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 114,159,895 (-500, +0) | 114,176,793 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv14909059 | deletion | SAMN00006370 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,238 |
| essv14909060 | deletion | SAMN00006531 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,378 |
| essv14909061 | deletion | SAMN00007818 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,857 |
| essv14909062 | deletion | SAMN00007942 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,376 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv14909059 | Remapped | Perfect | NC_000013.11:g.(11 3505080_113505580) _(113522478_113522 978)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,505,580 (-500, +0) | 113,522,478 (-0, +500) |
| essv14909060 | Remapped | Perfect | NC_000013.11:g.(11 3505080_113505580) _(113522478_113522 978)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,505,580 (-500, +0) | 113,522,478 (-0, +500) |
| essv14909061 | Remapped | Perfect | NC_000013.11:g.(11 3505080_113505580) _(113522478_113522 978)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,505,580 (-500, +0) | 113,522,478 (-0, +500) |
| essv14909062 | Remapped | Perfect | NC_000013.11:g.(11 3505080_113505580) _(113522478_113522 978)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,505,580 (-500, +0) | 113,522,478 (-0, +500) |
| essv14909059 | Submitted genomic | NC_000013.10:g.(11 4159395_114159895) _(114176793_114177 293)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,159,895 (-500, +0) | 114,176,793 (-0, +500) | ||
| essv14909060 | Submitted genomic | NC_000013.10:g.(11 4159395_114159895) _(114176793_114177 293)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,159,895 (-500, +0) | 114,176,793 (-0, +500) | ||
| essv14909061 | Submitted genomic | NC_000013.10:g.(11 4159395_114159895) _(114176793_114177 293)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,159,895 (-500, +0) | 114,176,793 (-0, +500) | ||
| essv14909062 | Submitted genomic | NC_000013.10:g.(11 4159395_114159895) _(114176793_114177 293)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,159,895 (-500, +0) | 114,176,793 (-0, +500) |