esv3894185
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:991,104
- Publication(s):Suktitipat et al. 2014
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: 3877 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 3877 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1102 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3894185 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 45,387,752 | 45,759,063 | 46,160,685 | 46,378,855 |
| esv3894185 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 45,387,854 | 45,759,165 | 46,160,787 | 46,378,957 |
| esv3894185 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 45,423,611 | 45,794,922 | 46,196,544 | 46,414,714 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25792550 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25789960 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25788110 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25789898 | copy number gain | SNP array | Probe signal intensity | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25792550 | Remapped | Perfect | NC_000005.10:g.(?_ 45387752)_(4616068 5_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 45,387,752 | 46,160,685 |
| essv25789960 | Remapped | Perfect | NC_000005.10:g.(?_ 45537197)_(4634838 1_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 45,537,197 | 46,348,381 |
| essv25788110 | Remapped | Perfect | NC_000005.10:g.(?_ 45701407)_(4637885 5_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 45,701,407 | 46,378,855 |
| essv25789898 | Remapped | Perfect | NC_000005.10:g.(?_ 45759063)_(4634838 1_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 45,759,063 | 46,348,381 |
| essv25792550 | Remapped | Perfect | NC_000005.9:g.(?_4 5387854)_(46160787 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 45,387,854 | 46,160,787 |
| essv25789960 | Remapped | Perfect | NC_000005.9:g.(?_4 5537299)_(46348483 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 45,537,299 | 46,348,483 |
| essv25788110 | Remapped | Perfect | NC_000005.9:g.(?_4 5701509)_(46378957 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 45,701,509 | 46,378,957 |
| essv25789898 | Remapped | Perfect | NC_000005.9:g.(?_4 5759165)_(46348483 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 45,759,165 | 46,348,483 |
| essv25792550 | Submitted genomic | NC_000005.8:g.(?_4 5423611)_(46196544 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 45,423,611 | 46,196,544 | ||
| essv25789960 | Submitted genomic | NC_000005.8:g.(?_4 5573056)_(46384240 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 45,573,056 | 46,384,240 | ||
| essv25788110 | Submitted genomic | NC_000005.8:g.(?_4 5737266)_(46414714 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 45,737,266 | 46,414,714 | ||
| essv25789898 | Submitted genomic | NC_000005.8:g.(?_4 5794922)_(46384240 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 45,794,922 | 46,384,240 |