esv3646265
- 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:231,666
- 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: 977 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 977 SVs from 72 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3646265 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 61,454,236 (-15, +15) | 61,685,901 (-15, +15) |
| esv3646265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 60,029,292 (-15, +15) | 60,260,957 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16219882 | deletion | SAMN00001172 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,062 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16219882 | Remapped | Perfect | NC_000020.11:g.(61 454221_61454251)_( 61685886_61685916) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 61,454,236 (-15, +15) | 61,685,901 (-15, +15) |
| essv16219882 | Submitted genomic | NC_000020.10:g.(60 029277_60029307)_( 60260942_60260972) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 60,029,292 (-15, +15) | 60,260,957 (-15, +15) |