esv2244500
- Organism: Homo sapiens
- Study:estd194 (Bentley 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:19,898
- Publication(s):Bentley 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: 133 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2244500 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 180,669,007 | 180,669,076 | 180,688,844 | 180,688,904 |
| esv2244500 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 180,386,795 | 180,386,864 | 180,406,632 | 180,406,692 |
| esv2244500 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 181,869,489 | 181,869,558 | 181,889,326 | 181,889,386 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv4789279 | Remapped | Perfect | NC_000003.12:g.(18 0669007_180669076) _(180688844_180688 904)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 180,669,007 | 180,669,076 | 180,688,844 | 180,688,904 |
| essv4789279 | Remapped | Perfect | NC_000003.11:g.(18 0386795_180386864) _(180406632_180406 692)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 180,386,795 | 180,386,864 | 180,406,632 | 180,406,692 |
| essv4789279 | Submitted genomic | NC_000003.10:g.(18 1869489_181869558) _(181889326_181889 386)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 181,869,489 | 181,869,558 | 181,889,326 | 181,889,386 |