esv5259
- Organism: Homo sapiens
- Study:estd3 (Wang et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,404
- Publication(s):Wang et al. 2008
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: 457 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 457 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv5259 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 18,942,359 | 18,964,762 |
esv5259 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 18,963,906 | 18,986,309 |
esv5259 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 18,920,482 | 18,942,885 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv27700 | copy number loss | YH | Sequencing | Read depth and paired-end mapping | 2,682 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv27700 | Remapped | Perfect | NC_000011.10:g.(18 942359_?)_(?_18964 762)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,942,359 | 18,964,762 |
essv27700 | Remapped | Perfect | NC_000011.9:g.(189 63906_?)_(?_189863 09)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 18,963,906 | 18,986,309 |
essv27700 | Submitted genomic | NC_000011.8:g.(189 20482_?)_(?_189428 85)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 18,920,482 | 18,942,885 |