esv3598515
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:124,178
- 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: 519 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 519 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3598515 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 165,820,750 | 165,944,927 |
| esv3598515 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 165,538,538 | 165,662,715 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv11214421 | copy number loss | SAMN00004674 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,809 |
| essv11214422 | copy number loss | SAMN00006362 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,917 |
| essv11214423 | copy number gain | SAMN01761570 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,245 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv11214421 | Remapped | Perfect | NC_000003.12:g.165 820750_165944927de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,820,750 | 165,944,927 |
| essv11214422 | Remapped | Perfect | NC_000003.12:g.165 820750_165944927de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,820,750 | 165,944,927 |
| essv11214423 | Remapped | Perfect | NC_000003.12:g.165 820750_165944927du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,820,750 | 165,944,927 |
| essv11214421 | Submitted genomic | NC_000003.11:g.165 538538_165662715de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,538,538 | 165,662,715 | ||
| essv11214422 | Submitted genomic | NC_000003.11:g.165 538538_165662715de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,538,538 | 165,662,715 | ||
| essv11214423 | Submitted genomic | NC_000003.11:g.165 538538_165662715du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,538,538 | 165,662,715 |