esv3606065
- 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:125,483
- 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: 394 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3606065 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 103,308,571 | 103,434,053 |
| esv3606065 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 102,644,272 | 102,769,754 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12002344 | copy number loss | SAMN00801105 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,721 |
| essv12002345 | copy number gain | SAMN00001046 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,260 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12002344 | Remapped | Perfect | NC_000005.10:g.103 308571_103434053de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 103,308,571 | 103,434,053 |
| essv12002345 | Remapped | Perfect | NC_000005.10:g.103 308571_103434053du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 103,308,571 | 103,434,053 |
| essv12002344 | Submitted genomic | NC_000005.9:g.1026 44272_102769754del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 102,644,272 | 102,769,754 | ||
| essv12002345 | Submitted genomic | NC_000005.9:g.1026 44272_102769754dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 102,644,272 | 102,769,754 |