esv13824
- 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:21,455
- 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: 389 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 389 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|
esv13824 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 6,083,632 | 6,105,086 |
esv13824 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 6,123,263 | 6,144,717 |
esv13824 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 6,089,789 | 6,111,243 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv70240 | copy number loss | NA18916 | Oligo aCGH | Probe signal intensity | 1,538 |
essv45342 | copy number loss | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
essv58048 | copy number loss | NA19108 | Oligo aCGH | Probe signal intensity | 1,563 |
essv83894 | copy number loss | NA19190 | Oligo aCGH | Probe signal intensity | 1,600 |
essv38277 | copy number loss | NA19257 | Oligo aCGH | Probe signal intensity | 1,254 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv70240 | Remapped | Perfect | NC_000007.14:g.(?_ 6083632)_(6103886_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,083,632 | 6,103,886 |
essv45342 | Remapped | Perfect | NC_000007.14:g.(?_ 6083632)_(6104031_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,083,632 | 6,104,031 |
essv58048 | Remapped | Perfect | NC_000007.14:g.(?_ 6083632)_(6104031_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,083,632 | 6,104,031 |
essv83894 | Remapped | Perfect | NC_000007.14:g.(?_ 6083632)_(6104411_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,083,632 | 6,104,411 |
essv38277 | Remapped | Perfect | NC_000007.14:g.(?_ 6083632)_(6105086_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,083,632 | 6,105,086 |
essv70240 | Remapped | Perfect | NC_000007.13:g.(?_ 6123263)_(6143517_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 6,123,263 | 6,143,517 |
essv45342 | Remapped | Perfect | NC_000007.13:g.(?_ 6123263)_(6143662_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 6,123,263 | 6,143,662 |
essv58048 | Remapped | Perfect | NC_000007.13:g.(?_ 6123263)_(6143662_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 6,123,263 | 6,143,662 |
essv83894 | Remapped | Perfect | NC_000007.13:g.(?_ 6123263)_(6144042_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 6,123,263 | 6,144,042 |
essv38277 | Remapped | Perfect | NC_000007.13:g.(?_ 6123263)_(6144717_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 6,123,263 | 6,144,717 |
essv70240 | Submitted genomic | NC_000007.12:g.(?_ 6089789)_(6110043_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 6,089,789 | 6,110,043 | ||
essv45342 | Submitted genomic | NC_000007.12:g.(?_ 6089789)_(6110188_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 6,089,789 | 6,110,188 | ||
essv58048 | Submitted genomic | NC_000007.12:g.(?_ 6089789)_(6110188_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 6,089,789 | 6,110,188 | ||
essv83894 | Submitted genomic | NC_000007.12:g.(?_ 6089789)_(6110568_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 6,089,789 | 6,110,568 | ||
essv38277 | Submitted genomic | NC_000007.12:g.(?_ 6089789)_(6111243_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 6,089,789 | 6,111,243 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv70240 | 2 | NA18916 | Oligo aCGH | Probe signal intensity | Pass |
essv58048 | 2 | NA19108 | Oligo aCGH | Probe signal intensity | Pass |
essv45342 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |
essv83894 | 2 | NA19190 | Oligo aCGH | Probe signal intensity | Pass |
essv38277 | 2 | NA19257 | Oligo aCGH | Probe signal intensity | Pass |