esv3627399
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:161,685
- 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: 523 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 523 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3627399 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 97,191,702 | 97,353,386 |
| esv3627399 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 97,062,702 | 97,224,386 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv14245468 | copy number loss | SAMN00001035 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,108 |
| essv14245469 | copy number loss | SAMN00007858 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,476 |
| essv14245470 | copy number gain | SAMN00779954 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,099 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv14245468 | Remapped | Perfect | NC_000011.10:g.971 91702_97353386del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 97,191,702 | 97,353,386 |
| essv14245469 | Remapped | Perfect | NC_000011.10:g.971 91702_97353386del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 97,191,702 | 97,353,386 |
| essv14245470 | Remapped | Perfect | NC_000011.10:g.971 91702_97353386dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 97,191,702 | 97,353,386 |
| essv14245468 | Submitted genomic | NC_000011.9:g.9706 2702_97224386del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 97,062,702 | 97,224,386 | ||
| essv14245469 | Submitted genomic | NC_000011.9:g.9706 2702_97224386del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 97,062,702 | 97,224,386 | ||
| essv14245470 | Submitted genomic | NC_000011.9:g.9706 2702_97224386dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 97,062,702 | 97,224,386 |