esv3566313
- 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:53,893
- 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: 843 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 843 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3566313 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 97,711,797 | 97,714,548 | 97,757,159 | 97,765,689 |
| esv3566313 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 97,047,501 | 97,050,252 | 97,092,863 | 97,101,393 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9765060 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv9765060 | Remapped | Perfect | NC_000005.10:g.(97 711797_97714548)_( 97757159_97765689) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,711,797 | 97,714,548 | 97,757,159 | 97,765,689 |
| essv9765060 | Submitted genomic | NC_000005.9:g.(970 47501_97050252)_(9 7092863_97101393)d el48273 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 97,047,501 | 97,050,252 | 97,092,863 | 97,101,393 |