esv3604077
- 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:275,783
- 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: 1239 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1239 SVs from 78 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3604077 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 13,816,838 | 14,092,620 |
esv3604077 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 13,816,947 | 14,092,729 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv11818075 | duplication | SAMN01761304 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,309 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv11818075 | Remapped | Perfect | NC_000005.10:g.138 16838_14092620dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 13,816,838 | 14,092,620 |
essv11818075 | Submitted genomic | NC_000005.9:g.1381 6947_14092729dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 13,816,947 | 14,092,729 |