esv3544282
- 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:185,500
- 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: 1382 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1382 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3544282 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,667,758 | 136,670,525 | 136,840,056 | 136,853,257 |
| esv3544282 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,680,001 | 137,682,768 | 137,852,299 | 137,865,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9743029 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv9743029 | Remapped | Perfect | NC_000008.11:g.(13 6667758_136670525) _(136840056_136853 257)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,667,758 | 136,670,525 | 136,840,056 | 136,853,257 |
| essv9743029 | Submitted genomic | NC_000008.10:g.(13 7680001_137682768) _(137852299_137865 500)del182085 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,680,001 | 137,682,768 | 137,852,299 | 137,865,500 |