esv3891352
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,406
- 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: 430 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 430 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891352 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 15,562,268 | 15,562,268 | 15,573,966 | 15,574,673 |
| esv3891352 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 15,419,777 | 15,419,777 | 15,431,475 | 15,432,182 |
| esv3891352 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 15,464,148 | 15,464,148 | 15,475,846 | 15,476,553 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25797307 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25797774 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25782993 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25785950 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25791519 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25799056 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25801596 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25797307 | Remapped | Perfect | NC_000008.11:g.(?_ 15562268)_(1557396 6_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 15,562,268 | 15,573,966 |
| essv25797774 | Remapped | Perfect | NC_000008.11:g.(?_ 15562268)_(1557396 6_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 15,562,268 | 15,573,966 |
| essv25782993 | Remapped | Perfect | NC_000008.11:g.(?_ 15562268)_(1557467 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 15,562,268 | 15,574,673 |
| essv25785950 | Remapped | Perfect | NC_000008.11:g.(?_ 15562268)_(1557467 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 15,562,268 | 15,574,673 |
| essv25791519 | Remapped | Perfect | NC_000008.11:g.(?_ 15562268)_(1557467 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 15,562,268 | 15,574,673 |
| essv25799056 | Remapped | Perfect | NC_000008.11:g.(?_ 15562268)_(1557467 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 15,562,268 | 15,574,673 |
| essv25801596 | Remapped | Perfect | NC_000008.11:g.(?_ 15562268)_(1557467 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 15,562,268 | 15,574,673 |
| essv25797307 | Remapped | Perfect | NC_000008.10:g.(?_ 15419777)_(1543147 5_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,419,777 | 15,431,475 |
| essv25797774 | Remapped | Perfect | NC_000008.10:g.(?_ 15419777)_(1543147 5_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,419,777 | 15,431,475 |
| essv25782993 | Remapped | Perfect | NC_000008.10:g.(?_ 15419777)_(1543218 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,419,777 | 15,432,182 |
| essv25785950 | Remapped | Perfect | NC_000008.10:g.(?_ 15419777)_(1543218 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,419,777 | 15,432,182 |
| essv25791519 | Remapped | Perfect | NC_000008.10:g.(?_ 15419777)_(1543218 2_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,419,777 | 15,432,182 |
| essv25799056 | Remapped | Perfect | NC_000008.10:g.(?_ 15419777)_(1543218 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,419,777 | 15,432,182 |
| essv25801596 | Remapped | Perfect | NC_000008.10:g.(?_ 15419777)_(1543218 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 15,419,777 | 15,432,182 |
| essv25797307 | Submitted genomic | NC_000008.9:g.(?_1 5464148)_(15475846 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,464,148 | 15,475,846 | ||
| essv25797774 | Submitted genomic | NC_000008.9:g.(?_1 5464148)_(15475846 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,464,148 | 15,475,846 | ||
| essv25782993 | Submitted genomic | NC_000008.9:g.(?_1 5464148)_(15476553 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,464,148 | 15,476,553 | ||
| essv25785950 | Submitted genomic | NC_000008.9:g.(?_1 5464148)_(15476553 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,464,148 | 15,476,553 | ||
| essv25791519 | Submitted genomic | NC_000008.9:g.(?_1 5464148)_(15476553 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,464,148 | 15,476,553 | ||
| essv25799056 | Submitted genomic | NC_000008.9:g.(?_1 5464148)_(15476553 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,464,148 | 15,476,553 | ||
| essv25801596 | Submitted genomic | NC_000008.9:g.(?_1 5464148)_(15476553 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,464,148 | 15,476,553 |