esv2750727
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,410
- Publication(s):de Smith et al. 2007
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: 161 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2750727 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 179,935,633 | 179,936,547 | 179,936,565 | 179,937,042 |
| esv2750727 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 179,653,421 | 179,654,335 | 179,654,353 | 179,654,830 |
| esv2750727 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 181,136,123 | 181,137,037 | 181,137,055 | 181,137,532 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv101406 | copy number loss | 21805 | Oligo aCGH | Probe signal intensity | 154 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv101406 | Remapped | Perfect | NC_000003.12:g.(17 9935633_179936547) _(179936565_179937 042)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 179,935,633 | 179,936,547 | 179,936,565 | 179,937,042 |
| essv101406 | Remapped | Perfect | NC_000003.11:g.(17 9653421_179654335) _(179654353_179654 830)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 179,653,421 | 179,654,335 | 179,654,353 | 179,654,830 |
| essv101406 | Submitted genomic | NC_000003.9:g.(181 136123_181137037)_ (181137055_1811375 32)del | NCBI35 (hg17) | NC_000003.9 | Chr3 | 181,136,123 | 181,137,037 | 181,137,055 | 181,137,532 |