esv3644525
- 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:21,548
- 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: 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3644525 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 46,260,753 (-500, +0) | 46,282,300 (-0, +500) |
| esv3644525 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 46,764,010 (-500, +0) | 46,785,557 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16068731 | deletion | SAMN00016854 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,755 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16068731 | Remapped | Perfect | NC_000019.10:g.(46 260253_46260753)_( 46282300_46282800) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 46,260,753 (-500, +0) | 46,282,300 (-0, +500) |
| essv16068731 | Submitted genomic | NC_000019.9:g.(467 63510_46764010)_(4 6785557_46786057)d el | GRCh37 (hg19) | NC_000019.9 | Chr19 | 46,764,010 (-500, +0) | 46,785,557 (-0, +500) |