esv2763818
- 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:24,019
- 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: 419 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 419 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2763818 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 25,552,629 | 25,576,647 |
| esv2763818 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 25,554,251 | 25,578,269 |
| esv2763818 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 25,163,349 | 25,187,367 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7029028 | copy number gain | SW_1047 | SNP array | SNP genotyping analysis | 22 |
| essv7029029 | copy number gain | SW_1447 | SNP array | SNP genotyping analysis | 35 |
| essv7029030 | copy number gain | SW_1119 | SNP array | SNP genotyping analysis | 41 |
| essv7029031 | copy number gain | SW_1189 | SNP array | SNP genotyping analysis | 35 |
| essv7029032 | copy number gain | SW_0048 | SNP array | SNP genotyping analysis | 32 |
| essv7029033 | copy number gain | SW_0103 | SNP array | SNP genotyping analysis | 37 |
| essv7029034 | copy number gain | SW_1301 | SNP array | SNP genotyping analysis | 31 |
| essv7029036 | copy number gain | SW_1483 | SNP array | SNP genotyping analysis | 25 |
| essv7029037 | copy number gain | SW_1199 | SNP array | SNP genotyping analysis | 37 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7029028 | Remapped | Perfect | NC_000004.12:g.(?_ 25552629)_(2557664 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,552,629 | 25,576,647 |
| essv7029029 | Remapped | Perfect | NC_000004.12:g.(?_ 25552629)_(2557664 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,552,629 | 25,576,647 |
| essv7029030 | Remapped | Perfect | NC_000004.12:g.(?_ 25554550)_(2557664 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,550 | 25,576,647 |
| essv7029031 | Remapped | Perfect | NC_000004.12:g.(?_ 25554550)_(2557664 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,550 | 25,576,647 |
| essv7029032 | Remapped | Perfect | NC_000004.12:g.(?_ 25555425)_(2557225 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,555,425 | 25,572,251 |
| essv7029033 | Remapped | Perfect | NC_000004.12:g.(?_ 25555425)_(2557664 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,555,425 | 25,576,647 |
| essv7029034 | Remapped | Perfect | NC_000004.12:g.(?_ 25555425)_(2557664 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,555,425 | 25,576,647 |
| essv7029036 | Remapped | Perfect | NC_000004.12:g.(?_ 25555425)_(2557664 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,555,425 | 25,576,647 |
| essv7029037 | Remapped | Perfect | NC_000004.12:g.(?_ 25555935)_(2557664 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,555,935 | 25,576,647 |
| essv7029028 | Remapped | Perfect | NC_000004.11:g.(?_ 25554251)_(2557826 9_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,554,251 | 25,578,269 |
| essv7029029 | Remapped | Perfect | NC_000004.11:g.(?_ 25554251)_(2557826 9_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,554,251 | 25,578,269 |
| essv7029030 | Remapped | Perfect | NC_000004.11:g.(?_ 25556172)_(2557826 9_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,172 | 25,578,269 |
| essv7029031 | Remapped | Perfect | NC_000004.11:g.(?_ 25556172)_(2557826 9_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,172 | 25,578,269 |
| essv7029032 | Remapped | Perfect | NC_000004.11:g.(?_ 25557047)_(2557387 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,557,047 | 25,573,873 |
| essv7029033 | Remapped | Perfect | NC_000004.11:g.(?_ 25557047)_(2557826 9_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,557,047 | 25,578,269 |
| essv7029034 | Remapped | Perfect | NC_000004.11:g.(?_ 25557047)_(2557826 9_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,557,047 | 25,578,269 |
| essv7029036 | Remapped | Perfect | NC_000004.11:g.(?_ 25557047)_(2557826 9_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,557,047 | 25,578,269 |
| essv7029037 | Remapped | Perfect | NC_000004.11:g.(?_ 25557557)_(2557826 9_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,557,557 | 25,578,269 |
| essv7029028 | Submitted genomic | NC_000004.10:g.(?_ 25163349)_(2518736 7_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,163,349 | 25,187,367 | ||
| essv7029029 | Submitted genomic | NC_000004.10:g.(?_ 25163349)_(2518736 7_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,163,349 | 25,187,367 | ||
| essv7029030 | Submitted genomic | NC_000004.10:g.(?_ 25165270)_(2518736 7_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,270 | 25,187,367 | ||
| essv7029031 | Submitted genomic | NC_000004.10:g.(?_ 25165270)_(2518736 7_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,270 | 25,187,367 | ||
| essv7029032 | Submitted genomic | NC_000004.10:g.(?_ 25166145)_(2518297 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,166,145 | 25,182,971 | ||
| essv7029033 | Submitted genomic | NC_000004.10:g.(?_ 25166145)_(2518736 7_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,166,145 | 25,187,367 | ||
| essv7029034 | Submitted genomic | NC_000004.10:g.(?_ 25166145)_(2518736 7_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,166,145 | 25,187,367 | ||
| essv7029036 | Submitted genomic | NC_000004.10:g.(?_ 25166145)_(2518736 7_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,166,145 | 25,187,367 | ||
| essv7029037 | Submitted genomic | NC_000004.10:g.(?_ 25166655)_(2518736 7_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,166,655 | 25,187,367 |