esv3848471
- 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:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:248,816
- 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: 944 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 944 SVs from 77 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3848471 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 15,246,089 | 15,494,904 |
esv3848471 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 15,285,714 | 15,534,529 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv20554333 | Remapped | Perfect | NC_000007.14:g.152 46089_15494904dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 15,246,089 | 15,494,904 |
essv20554333 | Submitted genomic | NC_000007.13:g.152 85714_15534529dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 15,285,714 | 15,534,529 |