esv3553714
- 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:63,144
- 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: 588 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 588 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3553714 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 78,268,104 | 78,268,604 | 78,330,364 | 78,331,247 |
| esv3553714 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 78,302,001 | 78,302,501 | 78,364,261 | 78,365,144 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9752461 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv9752461 | Remapped | Perfect | NC_000016.10:g.(78 268104_78268604)_( 78330364_78331247) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,268,104 | 78,268,604 | 78,330,364 | 78,331,247 |
| essv9752461 | Submitted genomic | NC_000016.9:g.(783 02001_78302501)_(7 8364261_78365144)d el62856 | GRCh37 (hg19) | NC_000016.9 | Chr16 | 78,302,001 | 78,302,501 | 78,364,261 | 78,365,144 |