esv3563683
- 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:55,636
- 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: 866 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 692 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 866 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3563683 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,773,826 | 34,780,879 | 34,824,258 | 34,829,461 |
| esv3563683 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 266,155 | 273,208 | 316,587 | 321,790 |
| esv3563683 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,775,448 | 34,782,501 | 34,825,880 | 34,831,083 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9762430 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv9762430 | Remapped | Perfect | NW_003315915.1:g.( 266155_273208)_(31 6587_321790)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 266,155 | 273,208 | 316,587 | 321,790 |
| essv9762430 | Remapped | Perfect | NC_000004.12:g.(34 773826_34780879)_( 34824258_34829461) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,773,826 | 34,780,879 | 34,824,258 | 34,829,461 |
| essv9762430 | Submitted genomic | NC_000004.11:g.(34 775448_34782501)_( 34825880_34831083) del49058 | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,775,448 | 34,782,501 | 34,825,880 | 34,831,083 |