esv2763860
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:19
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,074,172
- 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: 4091 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 4102 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 1066 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2763860 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 8,722,817 | 9,796,988 |
| esv2763860 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 8,724,543 | 9,798,612 |
| esv2763860 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 8,775,443 | 9,407,710 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7028598 | copy number gain | SW_1239 | SNP array | SNP genotyping analysis | 18 |
| essv7028599 | copy number gain | SW_1411 | SNP array | SNP genotyping analysis | 23 |
| essv7028600 | copy number gain | SW_1095 | SNP array | SNP genotyping analysis | 40 |
| essv7028602 | copy number gain | SW_1202 | SNP array | SNP genotyping analysis | 18 |
| essv7028603 | copy number loss | SW_0063 | SNP array | SNP genotyping analysis | 48 |
| essv7028604 | copy number gain | SW_1404 | SNP array | SNP genotyping analysis | 44 |
| essv7028605 | copy number loss | SW_0032 | SNP array | SNP genotyping analysis | 58 |
| essv7028606 | copy number loss | SW_1023 | SNP array | SNP genotyping analysis | 51 |
| essv7028607 | copy number loss | SW_1126 | SNP array | SNP genotyping analysis | 46 |
| essv7028608 | copy number loss | SW_1171 | SNP array | SNP genotyping analysis | 49 |
| essv7028609 | copy number loss | SW_0594 | SNP array | SNP genotyping analysis | 22 |
| essv7028610 | copy number loss | SW_0691 | SNP array | SNP genotyping analysis | 39 |
| essv7028611 | copy number loss | SW_0837 | SNP array | SNP genotyping analysis | 23 |
| essv7028613 | copy number loss | SW_1148 | SNP array | SNP genotyping analysis | 39 |
| essv7028614 | copy number loss | SW_1273 | SNP array | SNP genotyping analysis | 58 |
| essv7028615 | copy number loss | SW_0861 | SNP array | SNP genotyping analysis | 44 |
| essv7028616 | copy number loss | SW_1083 | SNP array | SNP genotyping analysis | 29 |
| essv7028617 | copy number loss | SW_1232 | SNP array | SNP genotyping analysis | 40 |
| essv7028618 | copy number loss | SW_0626 | SNP array | SNP genotyping analysis | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7028598 | Remapped | Pass | NC_000004.12:g.(?_ 8722817)_(9484440_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 8,722,817 | 9,484,440 |
| essv7028599 | Remapped | Perfect | NC_000004.12:g.(?_ 9368964)_(9455251_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,368,964 | 9,455,251 |
| essv7028600 | Remapped | Good | NC_000004.12:g.(?_ 9368964)_(9463248_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,368,964 | 9,463,248 |
| essv7028602 | Remapped | Good | NC_000004.12:g.(?_ 9368964)_(9484440_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,368,964 | 9,484,440 |
| essv7028603 | Remapped | Good | NC_000004.12:g.(?_ 9368964)_(9499750_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,368,964 | 9,499,750 |
| essv7028604 | Remapped | Good | NC_000004.12:g.(?_ 9368964)_(9796988_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,368,964 | 9,796,988 |
| essv7028605 | Remapped | Perfect | NC_000004.12:g.(?_ 9383120)_(9403314_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,383,120 | 9,403,314 |
| essv7028606 | Remapped | Good | NC_000004.12:g.(?_ 9455251)_(9484440_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,455,251 | 9,484,440 |
| essv7028607 | Remapped | Good | NC_000004.12:g.(?_ 9455251)_(9484440_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,455,251 | 9,484,440 |
| essv7028608 | Remapped | Good | NC_000004.12:g.(?_ 9455251)_(9484440_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,455,251 | 9,484,440 |
| essv7028609 | Remapped | Good | NC_000004.12:g.(?_ 9455251)_(9521364_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,455,251 | 9,521,364 |
| essv7028610 | Remapped | Good | NC_000004.12:g.(?_ 9455251)_(9527502_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,455,251 | 9,527,502 |
| essv7028611 | Remapped | Good | NC_000004.12:g.(?_ 9459504)_(9477699_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,459,504 | 9,477,699 |
| essv7028613 | Remapped | Good | NC_000004.12:g.(?_ 9459504)_(9477699_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,459,504 | 9,477,699 |
| essv7028614 | Remapped | Good | NC_000004.12:g.(?_ 9459504)_(9483653_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,459,504 | 9,483,653 |
| essv7028615 | Remapped | Good | NC_000004.12:g.(?_ 9459504)_(9484440_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,459,504 | 9,484,440 |
| essv7028616 | Remapped | Good | NC_000004.12:g.(?_ 9459504)_(9484440_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,459,504 | 9,484,440 |
| essv7028617 | Remapped | Good | NC_000004.12:g.(?_ 9459504)_(9484440_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,459,504 | 9,484,440 |
| essv7028618 | Remapped | Good | NC_000004.12:g.(?_ 9459504)_(9519212_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,459,504 | 9,519,212 |
| essv7028598 | Remapped | Pass | NC_000004.11:g.(?_ 8724543)_(9486087_ ?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 8,724,543 | 9,486,087 |
| essv7028599 | Remapped | Perfect | NC_000004.11:g.(?_ 9370690)_(9456977_ ?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,370,690 | 9,456,977 |
| essv7028600 | Remapped | Perfect | NC_000004.11:g.(?_ 9370690)_(9464972_ ?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,370,690 | 9,464,972 |
| essv7028602 | Remapped | Perfect | NC_000004.11:g.(?_ 9370690)_(9486087_ ?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,370,690 | 9,486,087 |
| essv7028603 | Remapped | Perfect | NC_000004.11:g.(?_ 9370690)_(9501394_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,370,690 | 9,501,394 |
| essv7028604 | Remapped | Perfect | NC_000004.11:g.(?_ 9370690)_(9798612_ ?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,370,690 | 9,798,612 |
| essv7028605 | Remapped | Perfect | NC_000004.11:g.(?_ 9384846)_(9405040_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,384,846 | 9,405,040 |
| essv7028606 | Remapped | Perfect | NC_000004.11:g.(?_ 9456977)_(9486087_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,456,977 | 9,486,087 |
| essv7028607 | Remapped | Perfect | NC_000004.11:g.(?_ 9456977)_(9486087_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,456,977 | 9,486,087 |
| essv7028608 | Remapped | Perfect | NC_000004.11:g.(?_ 9456977)_(9486087_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,456,977 | 9,486,087 |
| essv7028609 | Remapped | Perfect | NC_000004.11:g.(?_ 9456977)_(9523009_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,456,977 | 9,523,009 |
| essv7028610 | Remapped | Perfect | NC_000004.11:g.(?_ 9456977)_(9529130_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,456,977 | 9,529,130 |
| essv7028611 | Remapped | Perfect | NC_000004.11:g.(?_ 9461230)_(9479345_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,461,230 | 9,479,345 |
| essv7028613 | Remapped | Perfect | NC_000004.11:g.(?_ 9461230)_(9479345_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,461,230 | 9,479,345 |
| essv7028614 | Remapped | Perfect | NC_000004.11:g.(?_ 9461230)_(9485300_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,461,230 | 9,485,300 |
| essv7028615 | Remapped | Perfect | NC_000004.11:g.(?_ 9461230)_(9486087_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,461,230 | 9,486,087 |
| essv7028616 | Remapped | Perfect | NC_000004.11:g.(?_ 9461230)_(9486087_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,461,230 | 9,486,087 |
| essv7028617 | Remapped | Perfect | NC_000004.11:g.(?_ 9461230)_(9486087_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,461,230 | 9,486,087 |
| essv7028618 | Remapped | Perfect | NC_000004.11:g.(?_ 9461230)_(9520857_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 9,461,230 | 9,520,857 |
| essv7028598 | Submitted genomic | NC_000004.10:g.(?_ 8775443)_(9095185_ ?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 8,775,443 | 9,095,185 | ||
| essv7028599 | Submitted genomic | NC_000004.10:g.(?_ 8979788)_(9066075_ ?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 8,979,788 | 9,066,075 | ||
| essv7028600 | Submitted genomic | NC_000004.10:g.(?_ 8979788)_(9074070_ ?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 8,979,788 | 9,074,070 | ||
| essv7028602 | Submitted genomic | NC_000004.10:g.(?_ 8979788)_(9095185_ ?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 8,979,788 | 9,095,185 | ||
| essv7028603 | Submitted genomic | NC_000004.10:g.(?_ 8979788)_(9110492_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 8,979,788 | 9,110,492 | ||
| essv7028604 | Submitted genomic | NC_000004.10:g.(?_ 8979788)_(9407710_ ?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 8,979,788 | 9,407,710 | ||
| essv7028605 | Submitted genomic | NC_000004.10:g.(?_ 8993944)_(9014138_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 8,993,944 | 9,014,138 | ||
| essv7028606 | Submitted genomic | NC_000004.10:g.(?_ 9066075)_(9095185_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,066,075 | 9,095,185 | ||
| essv7028607 | Submitted genomic | NC_000004.10:g.(?_ 9066075)_(9095185_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,066,075 | 9,095,185 | ||
| essv7028608 | Submitted genomic | NC_000004.10:g.(?_ 9066075)_(9095185_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,066,075 | 9,095,185 | ||
| essv7028609 | Submitted genomic | NC_000004.10:g.(?_ 9066075)_(9132107_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,066,075 | 9,132,107 | ||
| essv7028610 | Submitted genomic | NC_000004.10:g.(?_ 9066075)_(9138228_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,066,075 | 9,138,228 | ||
| essv7028611 | Submitted genomic | NC_000004.10:g.(?_ 9070328)_(9088443_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,070,328 | 9,088,443 | ||
| essv7028613 | Submitted genomic | NC_000004.10:g.(?_ 9070328)_(9088443_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,070,328 | 9,088,443 | ||
| essv7028614 | Submitted genomic | NC_000004.10:g.(?_ 9070328)_(9094398_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,070,328 | 9,094,398 | ||
| essv7028615 | Submitted genomic | NC_000004.10:g.(?_ 9070328)_(9095185_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,070,328 | 9,095,185 | ||
| essv7028616 | Submitted genomic | NC_000004.10:g.(?_ 9070328)_(9095185_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,070,328 | 9,095,185 | ||
| essv7028617 | Submitted genomic | NC_000004.10:g.(?_ 9070328)_(9095185_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,070,328 | 9,095,185 | ||
| essv7028618 | Submitted genomic | NC_000004.10:g.(?_ 9070328)_(9129955_ ?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 9,070,328 | 9,129,955 |