esv2661892
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:308,624
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 930 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 930 SVs from 68 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
esv2661892 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 80,602,199 | 80,910,822 |
esv2661892 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 81,523,353 | 81,831,976 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5759671 | deletion | SAMN00801888 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 931 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5759671 | Remapped | Perfect | NC_000004.12:g.(?_ 80602199)_(8091082 2_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 80,602,199 | 80,910,822 |
essv5759671 | Submitted genomic | NC_000004.11:g.(?_ 81523353)_(8183197 6_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 81,523,353 | 81,831,976 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv5759671 | 7 | SAMN00801888 | SNP array | Probe signal intensity | Pass |