esv20927
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Yes
- Clinical Assertions: No
- Region Size:70,365
- 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: 582 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 590 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 225 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv20927 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 65,106,564 | 65,176,928 |
| esv20927 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 64,566,942 | 64,637,306 |
| esv20927 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 64,204,377 | 64,274,741 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv82039 | copy number loss | NA19114 | Oligo aCGH | Probe signal intensity | 1,473 |
| essv73466 | copy number loss | NA12156 | Oligo aCGH | Probe signal intensity | 1,085 |
| essv50643 | copy number loss | NA18517 | Oligo aCGH | Probe signal intensity | 1,365 |
| essv49064 | copy number loss | NA07037 | Oligo aCGH | Probe signal intensity | 1,154 |
| essv77695 | copy number loss | NA06985 | Oligo aCGH | Probe signal intensity | 1,144 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv82039 | Remapped | Perfect | NC_000007.14:g.(?_ 65106564)_(6517692 8_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,106,564 | 65,176,928 |
| essv73466 | Remapped | Perfect | NC_000007.14:g.(?_ 65106743)_(6517418 1_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,106,743 | 65,174,181 |
| essv50643 | Remapped | Perfect | NC_000007.14:g.(?_ 65123090)_(6517406 2_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,123,090 | 65,174,062 |
| essv49064 | Remapped | Perfect | NC_000007.14:g.(?_ 65123090)_(6517430 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,123,090 | 65,174,304 |
| essv77695 | Remapped | Perfect | NC_000007.14:g.(?_ 65123277)_(6517169 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,123,277 | 65,171,690 |
| essv82039 | Remapped | Perfect | NC_000007.13:g.(?_ 64566942)_(6463730 6_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 64,566,942 | 64,637,306 |
| essv73466 | Remapped | Perfect | NC_000007.13:g.(?_ 64567121)_(6463455 9_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 64,567,121 | 64,634,559 |
| essv50643 | Remapped | Perfect | NC_000007.13:g.(?_ 64583468)_(6463444 0_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 64,583,468 | 64,634,440 |
| essv49064 | Remapped | Perfect | NC_000007.13:g.(?_ 64583468)_(6463468 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 64,583,468 | 64,634,682 |
| essv77695 | Remapped | Perfect | NC_000007.13:g.(?_ 64583655)_(6463206 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 64,583,655 | 64,632,068 |
| essv82039 | Submitted genomic | NC_000007.12:g.(?_ 64204377)_(6427474 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 64,204,377 | 64,274,741 | ||
| essv73466 | Submitted genomic | NC_000007.12:g.(?_ 64204556)_(6427199 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 64,204,556 | 64,271,994 | ||
| essv50643 | Submitted genomic | NC_000007.12:g.(?_ 64220903)_(6427187 5_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 64,220,903 | 64,271,875 | ||
| essv49064 | Submitted genomic | NC_000007.12:g.(?_ 64220903)_(6427211 7_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 64,220,903 | 64,272,117 | ||
| essv77695 | Submitted genomic | NC_000007.12:g.(?_ 64221090)_(6426950 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 64,221,090 | 64,269,503 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv77695 | 2 | NA06985 | Oligo aCGH | Probe signal intensity | Pass |
| essv49064 | 2 | NA07037 | Oligo aCGH | Probe signal intensity | Pass |
| essv73466 | 2 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
| essv50643 | 2 | NA18517 | Oligo aCGH | Probe signal intensity | Pass |
| essv82039 | 2 | NA19114 | Oligo aCGH | Probe signal intensity | Pass |