esv13730
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:19,012
- 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: 653 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 699 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 500 SVs from 22 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 |
---|---|---|---|---|---|---|---|---|---|
esv13730 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 19,188,501 | 19,207,512 |
esv13730 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 19,780,194 | 19,799,205 |
esv13730 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 18,850,194 | 18,869,205 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv50028 | Remapped | Perfect | NC_000014.9:g.(?_1 9188501)_(19207512 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,188,501 | 19,207,512 |
essv78416 | Remapped | Perfect | NC_000014.9:g.(?_1 9191445)_(19207035 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,191,445 | 19,207,035 |
essv81151 | Remapped | Perfect | NC_000014.9:g.(?_1 9191523)_(19206334 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,191,523 | 19,206,334 |
essv50028 | Remapped | Perfect | NC_000014.8:g.(?_1 9780194)_(19799205 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 19,780,194 | 19,799,205 |
essv78416 | Remapped | Perfect | NC_000014.8:g.(?_1 9780671)_(19796261 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 19,780,671 | 19,796,261 |
essv81151 | Remapped | Perfect | NC_000014.8:g.(?_1 9781372)_(19796183 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 19,781,372 | 19,796,183 |
essv50028 | Submitted genomic | NC_000014.7:g.(?_1 8850194)_(18869205 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 18,850,194 | 18,869,205 | ||
essv78416 | Submitted genomic | NC_000014.7:g.(?_1 8850671)_(18866261 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 18,850,671 | 18,866,261 | ||
essv81151 | Submitted genomic | NC_000014.7:g.(?_1 8851372)_(18866183 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 18,851,372 | 18,866,183 |