esv3691600
- Organism: Homo sapiens
- Study:estd220 (Pettigrew et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:147,647
- Publication(s):Pettigrew et al. 2015
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: 1202 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 366 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 1202 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3691600 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 2,414,527 | 2,427,505 | 2,562,172 | 2,562,173 |
| esv3691600 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187515.1 | Chr1|NT_18 7515.1 | - | 1 | 113,362 | 113,363 |
| esv3691600 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 2,345,966 | 2,358,944 | 2,493,611 | 2,493,612 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16505907 | duplication | FR-31 | SNP array | SNP genotyping analysis | 42 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16505907 | Remapped | Pass | NT_187515.1:g.(?_1 )_(113362_113363)d up | GRCh38.p12 | Second Pass | NT_187515.1 | Chr1|NT_18 7515.1 | - | 1 | 113,362 | 113,363 |
| essv16505907 | Remapped | Perfect | NC_000001.11:g.(24 14527_2427505)_(25 62172_2562173)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 2,414,527 | 2,427,505 | 2,562,172 | 2,562,173 |
| essv16505907 | Submitted genomic | NC_000001.10:g.(23 45966_2358944)_(24 93611_2493612)dup1 34667 | GRCh37 (hg19) | NC_000001.10 | Chr1 | 2,345,966 | 2,358,944 | 2,493,611 | 2,493,612 |