esv2761411
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:279,345
- Publication(s):Vogler et al. 2010
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: 987 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 987 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 275 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2761411 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 46,247,760 | 46,527,104 |
| esv2761411 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 46,716,963 | 46,996,307 |
| esv2761411 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 45,786,713 | 46,066,057 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6998592 | copy number loss | SW_0369 | SNP array | SNP genotyping analysis | 24 |
| essv6998593 | copy number loss | SW_0198 | SNP array | SNP genotyping analysis | 45 |
| essv6998594 | copy number loss | SW_0043 | SNP array | SNP genotyping analysis | 35 |
| essv6998595 | copy number loss | SW_1082 | SNP array | SNP genotyping analysis | 39 |
| essv6998596 | copy number loss | SW_1428 | SNP array | SNP genotyping analysis | 37 |
| essv6998597 | copy number loss | SW_1245 | SNP array | SNP genotyping analysis | 23 |
| essv6998598 | copy number loss | SW_0202 | SNP array | SNP genotyping analysis | 25 |
| essv6998599 | copy number loss | SW_1419 | SNP array | SNP genotyping analysis | 32 |
| essv6998601 | copy number loss | SW_0819 | SNP array | SNP genotyping analysis | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6998592 | Remapped | Perfect | NC_000014.9:g.(?_4 6247760)_(46527104 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,247,760 | 46,527,104 |
| essv6998593 | Remapped | Perfect | NC_000014.9:g.(?_4 6281206)_(46301210 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,281,206 | 46,301,210 |
| essv6998594 | Remapped | Perfect | NC_000014.9:g.(?_4 6281206)_(46303072 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,281,206 | 46,303,072 |
| essv6998595 | Remapped | Perfect | NC_000014.9:g.(?_4 6281206)_(46303072 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,281,206 | 46,303,072 |
| essv6998596 | Remapped | Perfect | NC_000014.9:g.(?_4 6281206)_(46303072 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,281,206 | 46,303,072 |
| essv6998597 | Remapped | Perfect | NC_000014.9:g.(?_4 6281206)_(46313311 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,281,206 | 46,313,311 |
| essv6998598 | Remapped | Perfect | NC_000014.9:g.(?_4 6367684)_(46477221 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,367,684 | 46,477,221 |
| essv6998599 | Remapped | Perfect | NC_000014.9:g.(?_4 6367684)_(46477221 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,367,684 | 46,477,221 |
| essv6998601 | Remapped | Perfect | NC_000014.9:g.(?_4 6372132)_(46405397 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,372,132 | 46,405,397 |
| essv6998592 | Remapped | Perfect | NC_000014.8:g.(?_4 6716963)_(46996307 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,716,963 | 46,996,307 |
| essv6998593 | Remapped | Perfect | NC_000014.8:g.(?_4 6750409)_(46770413 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,750,409 | 46,770,413 |
| essv6998594 | Remapped | Perfect | NC_000014.8:g.(?_4 6750409)_(46772275 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,750,409 | 46,772,275 |
| essv6998595 | Remapped | Perfect | NC_000014.8:g.(?_4 6750409)_(46772275 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,750,409 | 46,772,275 |
| essv6998596 | Remapped | Perfect | NC_000014.8:g.(?_4 6750409)_(46772275 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,750,409 | 46,772,275 |
| essv6998597 | Remapped | Perfect | NC_000014.8:g.(?_4 6750409)_(46782514 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,750,409 | 46,782,514 |
| essv6998598 | Remapped | Perfect | NC_000014.8:g.(?_4 6836887)_(46946424 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,836,887 | 46,946,424 |
| essv6998599 | Remapped | Perfect | NC_000014.8:g.(?_4 6836887)_(46946424 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,836,887 | 46,946,424 |
| essv6998601 | Remapped | Perfect | NC_000014.8:g.(?_4 6841335)_(46874600 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,841,335 | 46,874,600 |
| essv6998592 | Submitted genomic | NC_000014.7:g.(?_4 5786713)_(46066057 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,786,713 | 46,066,057 | ||
| essv6998593 | Submitted genomic | NC_000014.7:g.(?_4 5820159)_(45840163 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,820,159 | 45,840,163 | ||
| essv6998594 | Submitted genomic | NC_000014.7:g.(?_4 5820159)_(45842025 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,820,159 | 45,842,025 | ||
| essv6998595 | Submitted genomic | NC_000014.7:g.(?_4 5820159)_(45842025 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,820,159 | 45,842,025 | ||
| essv6998596 | Submitted genomic | NC_000014.7:g.(?_4 5820159)_(45842025 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,820,159 | 45,842,025 | ||
| essv6998597 | Submitted genomic | NC_000014.7:g.(?_4 5820159)_(45852264 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,820,159 | 45,852,264 | ||
| essv6998598 | Submitted genomic | NC_000014.7:g.(?_4 5906637)_(46016174 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,906,637 | 46,016,174 | ||
| essv6998599 | Submitted genomic | NC_000014.7:g.(?_4 5906637)_(46016174 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,906,637 | 46,016,174 | ||
| essv6998601 | Submitted genomic | NC_000014.7:g.(?_4 5911085)_(45944350 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,911,085 | 45,944,350 |