esv3639795
- 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:8,255
- 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: 162 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 34 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3639795 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 4,812,578 (-245, +0) | 4,820,832 (-0, +42) |
esv3639795 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 4,715,873 (-245, +0) | 4,724,127 (-0, +42) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv15595173 | deletion | SAMN01036757 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,215 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv15595173 | Remapped | Perfect | NC_000017.11:g.(48 12333_4812578)_(48 20832_4820874)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 4,812,578 (-245, +0) | 4,820,832 (-0, +42) |
essv15595173 | Submitted genomic | NC_000017.10:g.(47 15628_4715873)_(47 24127_4724169)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 4,715,873 (-245, +0) | 4,724,127 (-0, +42) |