esv17048
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:70,755
- 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: 833 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 833 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 309 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 |
---|---|---|---|---|---|---|---|---|---|
esv17048 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 105,097,208 | 105,167,962 |
esv17048 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 104,432,909 | 104,503,663 |
esv17048 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 104,460,808 | 104,531,562 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv40681 | Remapped | Perfect | NC_000005.10:g.(?_ 105097208)_(105167 962_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 105,097,208 | 105,167,962 |
essv40681 | Remapped | Perfect | NC_000005.9:g.(?_1 04432909)_(1045036 63_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 104,432,909 | 104,503,663 |
essv40681 | Submitted genomic | NC_000005.8:g.(?_1 04460808)_(1045315 62_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 104,460,808 | 104,531,562 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv40681 | 2 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |