esv3852837
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:142,335
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 814 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 814 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3852837 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 14,044,616 | 14,186,950 |
| esv3852837 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 13,902,125 | 14,044,459 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21053037 | copy number loss | NA19428 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,082 |
| essv21053038 | copy number gain | HG03280 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,000 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21053037 | Remapped | Perfect | NC_000008.11:g.140 44616_14186950del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,044,616 | 14,186,950 |
| essv21053038 | Remapped | Perfect | NC_000008.11:g.140 44616_14186950dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,044,616 | 14,186,950 |
| essv21053037 | Submitted genomic | NC_000008.10:g.139 02125_14044459del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 13,902,125 | 14,044,459 | ||
| essv21053038 | Submitted genomic | NC_000008.10:g.139 02125_14044459dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 13,902,125 | 14,044,459 |