esv3819668
- 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:267,246
- 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: 720 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 721 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 |
---|---|---|---|---|---|---|---|---|---|
esv3819668 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 73,908,170 | 74,175,415 |
esv3819668 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 74,373,853 | 74,641,099 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv17108031 | Remapped | Perfect | NC_000001.11:g.739 08170_74175415dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 73,908,170 | 74,175,415 |
essv17108031 | Submitted genomic | NC_000001.10:g.743 73853_74641099dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 74,373,853 | 74,641,099 |