esv4147
- 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:40,588
- 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: 263 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 16 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 |
---|---|---|---|---|---|---|---|---|---|
esv4147 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 125,111,011 | 125,151,598 |
esv4147 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 126,799,580 | 126,840,167 |
esv4147 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 126,789,570 | 126,830,157 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv26588 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv26588 | Remapped | Perfect | NC_000010.11:g.(12 5111011_?)_(?_1251 51598)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 125,111,011 | 125,151,598 |
essv26588 | Remapped | Perfect | NC_000010.10:g.(12 6799580_?)_(?_1268 40167)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 126,799,580 | 126,840,167 |
essv26588 | Submitted genomic | NC_000010.9:g.(126 789570_?)_(?_12683 0157)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 126,789,570 | 126,830,157 |