esv17294
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,012
- Publication(s):Conrad et al. 2009
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: 440 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv17294 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 43,854,895 | 43,871,906 |
| esv17294 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 44,082,034 | 44,099,045 |
| esv17294 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 43,935,538 | 43,952,549 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv53959 | copy number gain | NA18508 | Oligo aCGH | Probe signal intensity | 1,478 |
| essv58780 | copy number gain | NA19108 | Oligo aCGH | Probe signal intensity | 1,563 |
| essv42925 | copy number loss | NA18909 | Oligo aCGH | Probe signal intensity | 1,535 |
| essv66972 | copy number loss | NA12828 | Oligo aCGH | Probe signal intensity | 1,072 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv53959 | Remapped | Perfect | NC_000002.12:g.(?_ 43854895)_(4387190 6_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 43,854,895 | 43,871,906 |
| essv58780 | Remapped | Perfect | NC_000002.12:g.(?_ 43855363)_(4387173 1_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 43,855,363 | 43,871,731 |
| essv42925 | Remapped | Perfect | NC_000002.12:g.(?_ 43855748)_(4387147 1_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 43,855,748 | 43,871,471 |
| essv66972 | Remapped | Perfect | NC_000002.12:g.(?_ 43856136)_(4387147 1_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 43,856,136 | 43,871,471 |
| essv53959 | Remapped | Perfect | NC_000002.11:g.(?_ 44082034)_(4409904 5_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 44,082,034 | 44,099,045 |
| essv58780 | Remapped | Perfect | NC_000002.11:g.(?_ 44082502)_(4409887 0_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 44,082,502 | 44,098,870 |
| essv42925 | Remapped | Perfect | NC_000002.11:g.(?_ 44082887)_(4409861 0_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 44,082,887 | 44,098,610 |
| essv66972 | Remapped | Perfect | NC_000002.11:g.(?_ 44083275)_(4409861 0_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 44,083,275 | 44,098,610 |
| essv53959 | Submitted genomic | NC_000002.10:g.(?_ 43935538)_(4395254 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 43,935,538 | 43,952,549 | ||
| essv58780 | Submitted genomic | NC_000002.10:g.(?_ 43936006)_(4395237 4_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 43,936,006 | 43,952,374 | ||
| essv42925 | Submitted genomic | NC_000002.10:g.(?_ 43936391)_(4395211 4_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 43,936,391 | 43,952,114 | ||
| essv66972 | Submitted genomic | NC_000002.10:g.(?_ 43936779)_(4395211 4_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 43,936,779 | 43,952,114 |