esv3604952
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,183
- 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: 180 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3604952 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 45,623,206 (-1000, +500) | 45,639,388 (-500, +1000) |
| esv3604952 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 45,623,308 (-1000, +500) | 45,639,490 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv11892341 | deletion | SAMN01091062 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,669 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv11892341 | Remapped | Perfect | NC_000005.10:g.(45 622206_45623706)_( 45638888_45640388) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 45,623,206 (-1000, +500) | 45,639,388 (-500, +1000) |
| essv11892341 | Submitted genomic | NC_000005.9:g.(456 22308_45623808)_(4 5638990_45640490)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 45,623,308 (-1000, +500) | 45,639,490 (-500, +1000) |