esv3584702
- 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:103,689
- 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: 900 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 511 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 900 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 402 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584702 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,498,856 | 16,602,544 |
| esv3584702 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,159,916 | 2,263,603 |
| esv3584702 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 16,592,713 | 16,696,401 |
| esv3584702 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 16,500,214 | 16,603,902 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838780 | copy number loss | OA059 | SNP array | Probe signal intensity | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838780 | Remapped | Good | NT_187607.1:g.(?_2 159916)_(2263603_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,159,916 | 2,263,603 |
| essv9838780 | Remapped | Perfect | NC_000016.10:g.(?_ 16498856)_(1660254 4_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,498,856 | 16,602,544 |
| essv9838780 | Remapped | Perfect | NC_000016.9:g.(?_1 6592713)_(16696401 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,592,713 | 16,696,401 |
| essv9838780 | Submitted genomic | NC_000016.8:g.(?_1 6500214)_(16603902 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,500,214 | 16,603,902 |