esv4005389
- 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:49,059
- 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: 858 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 690 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 858 SVs from 88 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4005389 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,778,263 | 34,827,321 |
| esv4005389 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,592 | 319,650 |
| esv4005389 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,779,885 | 34,828,943 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26059280 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26059280 | Remapped | Perfect | NW_003315915.1:g.2 70592_319650del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,592 | 319,650 |
| essv26059280 | Remapped | Perfect | NC_000004.12:g.347 78263_34827321del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,778,263 | 34,827,321 |
| essv26059280 | Submitted genomic | NC_000004.11:g.347 79885_34828943del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,885 | 34,828,943 |