esv3551429
- Organism: Homo sapiens
- Study:estd215 (GoNL)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:65,617
- Publication(s):Boomsma et al. 2013
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: 704 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 704 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3551429 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 41,137,798 | 41,143,151 | 41,194,797 | 41,203,414 |
| esv3551429 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 41,607,001 | 41,612,354 | 41,664,000 | 41,672,617 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9750176 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv9750176 | Remapped | Perfect | NC_000014.9:g.(411 37798_41143151)_(4 1194797_41203414)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,137,798 | 41,143,151 | 41,194,797 | 41,203,414 |
| essv9750176 | Submitted genomic | NC_000014.8:g.(416 07001_41612354)_(4 1664000_41672617)d el60231 | GRCh37 (hg19) | NC_000014.8 | Chr14 | 41,607,001 | 41,612,354 | 41,664,000 | 41,672,617 |