esv12461
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Yes
- Clinical Assertions: No
- Region Size:29,575
- 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: 390 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 390 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv12461 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 87,237,423 | 87,266,997 |
| esv12461 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 88,997,180 | 89,026,754 |
| esv12461 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 88,987,160 | 89,016,734 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv76776 | copy number loss | NA18511 | Oligo aCGH | Probe signal intensity | 986 |
| essv73614 | copy number loss | NA12156 | Oligo aCGH | Probe signal intensity | 1,085 |
| essv69612 | copy number loss | NA12044 | Oligo aCGH | Probe signal intensity | 1,055 |
| essv78554 | copy number loss | NA06985 | Oligo aCGH | Probe signal intensity | 1,144 |
| essv60147 | copy number loss | NA18523 | Oligo aCGH | Probe signal intensity | 1,446 |
| essv40470 | copy number loss | NA12878 | Oligo aCGH | Probe signal intensity | 1,172 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv76776 | Remapped | Perfect | NC_000010.11:g.(?_ 87237423)_(8726376 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,237,423 | 87,263,760 |
| essv73614 | Remapped | Perfect | NC_000010.11:g.(?_ 87237448)_(8726335 4_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,237,448 | 87,263,354 |
| essv69612 | Remapped | Perfect | NC_000010.11:g.(?_ 87237448)_(8726485 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,237,448 | 87,264,857 |
| essv78554 | Remapped | Perfect | NC_000010.11:g.(?_ 87237448)_(8726485 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,237,448 | 87,264,857 |
| essv60147 | Remapped | Perfect | NC_000010.11:g.(?_ 87237583)_(8726699 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,237,583 | 87,266,997 |
| essv40470 | Remapped | Perfect | NC_000010.11:g.(?_ 87238020)_(8726485 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,238,020 | 87,264,857 |
| essv76776 | Remapped | Perfect | NC_000010.10:g.(?_ 88997180)_(8902351 7_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,180 | 89,023,517 |
| essv73614 | Remapped | Perfect | NC_000010.10:g.(?_ 88997205)_(8902311 1_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,205 | 89,023,111 |
| essv69612 | Remapped | Perfect | NC_000010.10:g.(?_ 88997205)_(8902461 4_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,205 | 89,024,614 |
| essv78554 | Remapped | Perfect | NC_000010.10:g.(?_ 88997205)_(8902461 4_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,205 | 89,024,614 |
| essv60147 | Remapped | Perfect | NC_000010.10:g.(?_ 88997340)_(8902675 4_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,340 | 89,026,754 |
| essv40470 | Remapped | Perfect | NC_000010.10:g.(?_ 88997777)_(8902461 4_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,777 | 89,024,614 |
| essv76776 | Submitted genomic | NC_000010.9:g.(?_8 8987160)_(89013497 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 88,987,160 | 89,013,497 | ||
| essv73614 | Submitted genomic | NC_000010.9:g.(?_8 8987185)_(89013091 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 88,987,185 | 89,013,091 | ||
| essv69612 | Submitted genomic | NC_000010.9:g.(?_8 8987185)_(89014594 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 88,987,185 | 89,014,594 | ||
| essv78554 | Submitted genomic | NC_000010.9:g.(?_8 8987185)_(89014594 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 88,987,185 | 89,014,594 | ||
| essv60147 | Submitted genomic | NC_000010.9:g.(?_8 8987320)_(89016734 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 88,987,320 | 89,016,734 | ||
| essv40470 | Submitted genomic | NC_000010.9:g.(?_8 8987757)_(89014594 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 88,987,757 | 89,014,594 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv78554 | 2 | NA06985 | Oligo aCGH | Probe signal intensity | Pass |
| essv69612 | 2 | NA12044 | Oligo aCGH | Probe signal intensity | Pass |
| essv73614 | 2 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
| essv40470 | 2 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |
| essv76776 | 2 | NA18511 | Oligo aCGH | Probe signal intensity | Pass |
| essv60147 | 2 | NA18523 | Oligo aCGH | Probe signal intensity | Pass |