esv3592624
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,486
- 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: 220 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3592624 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 137,446,189 | 137,469,674 |
| esv3592624 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 138,203,759 | 138,227,244 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10685956 | copy number loss | SAMN00001044 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,190 |
| essv10685957 | copy number gain | SAMN00007797 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,620 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10685956 | Remapped | Perfect | NC_000002.12:g.137 446189_137469674de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,446,189 | 137,469,674 |
| essv10685957 | Remapped | Perfect | NC_000002.12:g.137 446189_137469674du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,446,189 | 137,469,674 |
| essv10685956 | Submitted genomic | NC_000002.11:g.138 203759_138227244de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,203,759 | 138,227,244 | ||
| essv10685957 | Submitted genomic | NC_000002.11:g.138 203759_138227244du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,203,759 | 138,227,244 |