esv13922
- 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:Yes
- Clinical Assertions: No
- Region Size:52,255
- 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: 3799 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 3792 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2705 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv13922 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,376,661 | 20,428,915 |
| esv13922 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 20,581,914 | 20,634,168 |
| esv13922 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 18,841,928 | 18,894,182 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv45029 | copy number loss | NA12489 | Oligo aCGH | Probe signal intensity | 1,098 |
| essv49005 | copy number gain | NA07037 | Oligo aCGH | Probe signal intensity | 1,154 |
| essv59323 | copy number loss | NA19108 | Oligo aCGH | Probe signal intensity | 1,563 |
| essv63474 | copy number gain | NA15510 | Oligo aCGH | Probe signal intensity | 1,307 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv45029 | Remapped | Perfect | NC_000015.10:g.(?_ 20376661)_(2042891 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,376,661 | 20,428,915 |
| essv49005 | Remapped | Perfect | NC_000015.10:g.(?_ 20383251)_(2042882 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,383,251 | 20,428,822 |
| essv59323 | Remapped | Perfect | NC_000015.10:g.(?_ 20384739)_(2042891 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,384,739 | 20,428,915 |
| essv63474 | Remapped | Perfect | NC_000015.10:g.(?_ 20384777)_(2042882 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,384,777 | 20,428,822 |
| essv45029 | Remapped | Perfect | NC_000015.9:g.(?_2 0581914)_(20634168 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,581,914 | 20,634,168 |
| essv49005 | Remapped | Perfect | NC_000015.9:g.(?_2 0588504)_(20634075 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,588,504 | 20,634,075 |
| essv59323 | Remapped | Perfect | NC_000015.9:g.(?_2 0589992)_(20634168 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,589,992 | 20,634,168 |
| essv63474 | Remapped | Perfect | NC_000015.9:g.(?_2 0590030)_(20634075 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,590,030 | 20,634,075 |
| essv45029 | Submitted genomic | NC_000015.8:g.(?_1 8841928)_(18894182 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,841,928 | 18,894,182 | ||
| essv49005 | Submitted genomic | NC_000015.8:g.(?_1 8848518)_(18894089 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,848,518 | 18,894,089 | ||
| essv59323 | Submitted genomic | NC_000015.8:g.(?_1 8850006)_(18894182 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,850,006 | 18,894,182 | ||
| essv63474 | Submitted genomic | NC_000015.8:g.(?_1 8850044)_(18894089 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,850,044 | 18,894,089 |