esv3589906
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:323,818
- 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: 841 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 841 SVs from 70 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3589906 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 15,024,706 (-37, +38) | 15,348,523 (-37, +38) |
esv3589906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 15,164,830 (-37, +38) | 15,488,647 (-37, +38) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv10416068 | deletion | SAMN00249739 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,477 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv10416068 | Remapped | Perfect | NC_000002.12:g.(15 024669_15024744)_( 15348486_15348561) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 15,024,706 (-37, +38) | 15,348,523 (-37, +38) |
essv10416068 | Submitted genomic | NC_000002.11:g.(15 164793_15164868)_( 15488610_15488685) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 15,164,830 (-37, +38) | 15,488,647 (-37, +38) |