esv3832411
- 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:46,732
- 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: 386 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 386 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3832411 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 145,504,279 | 145,551,010 |
| esv3832411 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 145,222,066 | 145,268,797 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv18522728 | copy number loss | HG01432 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,051 |
| essv18522729 | copy number gain | HG03491 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,128 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv18522728 | Remapped | Perfect | NC_000003.12:g.145 504279_145551010de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 145,504,279 | 145,551,010 |
| essv18522729 | Remapped | Perfect | NC_000003.12:g.145 504279_145551010du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 145,504,279 | 145,551,010 |
| essv18522728 | Submitted genomic | NC_000003.11:g.145 222066_145268797de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 145,222,066 | 145,268,797 | ||
| essv18522729 | Submitted genomic | NC_000003.11:g.145 222066_145268797du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 145,222,066 | 145,268,797 |