esv3584703
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,440
- Publication(s):Mokhtar et al. 2014
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: 804 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 469 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 804 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 382 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3584703 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,539,504 | 16,596,943 |
| esv3584703 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,200,564 | 2,258,001 |
| esv3584703 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 16,633,361 | 16,690,800 |
| esv3584703 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 16,540,862 | 16,598,301 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838694 | copy number loss | B10 | SNP array | Probe signal intensity | 39 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838694 | Remapped | Good | NT_187607.1:g.(?_2 200564)_(2258001_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,200,564 | 2,258,001 |
| essv9838694 | Remapped | Perfect | NC_000016.10:g.(?_ 16539504)_(1659694 3_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,539,504 | 16,596,943 |
| essv9838694 | Remapped | Perfect | NC_000016.9:g.(?_1 6633361)_(16690800 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,633,361 | 16,690,800 |
| essv9838694 | Submitted genomic | NC_000016.8:g.(?_1 6540862)_(16598301 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,540,862 | 16,598,301 |