esv4008217
- Organism: Homo sapiens
- Study:estd231 (Wong et al. 2017)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:61,632
- Publication(s):Wong et al. 2017
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: 654 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 707 SVs from 66 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4008217 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 42,105,879 | 42,167,510 |
| esv4008217 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187579.1 | Chr10|NT_1 87579.1 | 2,640 | 64,271 |
| esv4008217 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 42,601,327 | 42,662,958 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26064696 | duplication | Sequencing | Split read and paired-end mapping | Juvenile idiopathic arthritis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26064696 | Remapped | Perfect | NT_187579.1:g.2640 _64271dup | GRCh38.p12 | Second Pass | NT_187579.1 | Chr10|NT_1 87579.1 | 2,640 | 64,271 |
| essv26064696 | Remapped | Perfect | NC_000010.11:g.421 05879_42167510dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 42,105,879 | 42,167,510 |
| essv26064696 | Submitted genomic | NC_000010.10:g.426 01327_42662958dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 42,601,327 | 42,662,958 |