esv3874935
- 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:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,291
- 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: 174 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3874935 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 44,131,359 (-11, +12) | 44,148,649 (-11, +12) |
| esv3874935 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 44,423,557 (-11, +12) | 44,440,847 (-11, +12) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv23729781 | deletion | HG00189 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,558 |
| essv23729782 | deletion | HG00267 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,486 |
| essv23729783 | deletion | HG00332 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,201 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv23729781 | Remapped | Perfect | NC_000015.10:g.(44 131348_44131371)_( 44148638_44148661) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 44,131,359 (-11, +12) | 44,148,649 (-11, +12) |
| essv23729782 | Remapped | Perfect | NC_000015.10:g.(44 131348_44131371)_( 44148638_44148661) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 44,131,359 (-11, +12) | 44,148,649 (-11, +12) |
| essv23729783 | Remapped | Perfect | NC_000015.10:g.(44 131348_44131371)_( 44148638_44148661) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 44,131,359 (-11, +12) | 44,148,649 (-11, +12) |
| essv23729781 | Submitted genomic | NC_000015.9:g.(444 23546_44423569)_(4 4440836_44440859)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 44,423,557 (-11, +12) | 44,440,847 (-11, +12) | ||
| essv23729782 | Submitted genomic | NC_000015.9:g.(444 23546_44423569)_(4 4440836_44440859)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 44,423,557 (-11, +12) | 44,440,847 (-11, +12) | ||
| essv23729783 | Submitted genomic | NC_000015.9:g.(444 23546_44423569)_(4 4440836_44440859)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 44,423,557 (-11, +12) | 44,440,847 (-11, +12) |