esv2760937
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,011,996
- 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: 3930 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 3930 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1126 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 | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2760937 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 45,377,176 | 46,389,171 |
| esv2760937 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 45,377,278 | 46,389,273 |
| esv2760937 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 45,413,035 | 46,425,030 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7012752 | copy number gain | RW_0573 | SNP array | SNP genotyping analysis | 43 |
| essv7012753 | copy number loss | RW_0354 | SNP array | SNP genotyping analysis | 40 |
| essv7012754 | copy number loss | RW_0216 | SNP array | SNP genotyping analysis | 76 |
| essv7012756 | copy number loss | RW_0092 | SNP array | SNP genotyping analysis | 49 |
| essv7012757 | copy number gain | RW_0507 | SNP array | SNP genotyping analysis | 31 |
| essv7012758 | copy number gain | RW_0069 | SNP array | SNP genotyping analysis | 42 |
| essv7012759 | copy number gain | RW_0229 | SNP array | SNP genotyping analysis | 57 |
| essv7012760 | copy number loss | RW_0257 | SNP array | SNP genotyping analysis | 61 |
| essv7012761 | copy number loss | RW_0002 | SNP array | SNP genotyping analysis | 76 |
| essv7012762 | copy number loss | RW_0041 | SNP array | SNP genotyping analysis | 39 |
| essv7012763 | copy number loss | RW_0057 | SNP array | SNP genotyping analysis | 50 |
| essv7012764 | copy number loss | RW_0096 | SNP array | SNP genotyping analysis | 33 |
| essv7012765 | copy number loss | RW_0266 | SNP array | SNP genotyping analysis | 56 |
| essv7012767 | copy number loss | RW_0273 | SNP array | SNP genotyping analysis | 56 |
| essv7012768 | copy number loss | RW_0503 | SNP array | SNP genotyping analysis | 46 |
| essv7012769 | copy number loss | RW_0515 | SNP array | SNP genotyping analysis | 47 |
| essv7012770 | copy number loss | RW_0539 | SNP array | SNP genotyping analysis | 47 |
| essv7012771 | copy number loss | RW_0545 | SNP array | SNP genotyping analysis | 32 |
| essv7012772 | copy number loss | RW_0582 | SNP array | SNP genotyping analysis | 48 |
| essv7012773 | copy number loss | RW_0620 | SNP array | SNP genotyping analysis | 39 |
| essv7012774 | copy number loss | RW_0627 | SNP array | SNP genotyping analysis | 33 |
| essv7012775 | copy number loss | RW_0637 | SNP array | SNP genotyping analysis | 56 |
| essv7012776 | copy number loss | RW_0564 | SNP array | SNP genotyping analysis | 45 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7012752 | Remapped | Perfect | NC_000005.10:g.(?_ 45377176)_(4638917 1_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 45,377,176 | 46,389,171 |
| essv7012753 | Remapped | Perfect | NC_000005.10:g.(?_ 45831448)_(4638917 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 45,831,448 | 46,389,171 |
| essv7012754 | Remapped | Perfect | NC_000005.10:g.(?_ 46151729)_(4617476 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,151,729 | 46,174,762 |
| essv7012756 | Remapped | Perfect | NC_000005.10:g.(?_ 46195781)_(4619933 3_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,195,781 | 46,199,333 |
| essv7012757 | Remapped | Perfect | NC_000005.10:g.(?_ 46209197)_(4627811 0_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,209,197 | 46,278,110 |
| essv7012758 | Remapped | Perfect | NC_000005.10:g.(?_ 46209197)_(4638917 1_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,209,197 | 46,389,171 |
| essv7012759 | Remapped | Perfect | NC_000005.10:g.(?_ 46246411)_(4627811 0_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,246,411 | 46,278,110 |
| essv7012760 | Remapped | Perfect | NC_000005.10:g.(?_ 46251204)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,251,204 | 46,273,400 |
| essv7012761 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012762 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012763 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012764 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012765 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012767 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012768 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012769 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012770 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012771 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012772 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012773 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012774 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012775 | Remapped | Perfect | NC_000005.10:g.(?_ 46270906)_(4627340 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,270,906 | 46,273,400 |
| essv7012776 | Remapped | Perfect | NC_000005.10:g.(?_ 46377225)_(4638917 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 46,377,225 | 46,389,171 |
| essv7012752 | Remapped | Perfect | NC_000005.9:g.(?_4 5377278)_(46389273 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 45,377,278 | 46,389,273 |
| essv7012753 | Remapped | Perfect | NC_000005.9:g.(?_4 5831550)_(46389273 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 45,831,550 | 46,389,273 |
| essv7012754 | Remapped | Perfect | NC_000005.9:g.(?_4 6151831)_(46174864 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,151,831 | 46,174,864 |
| essv7012756 | Remapped | Perfect | NC_000005.9:g.(?_4 6195883)_(46199435 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,195,883 | 46,199,435 |
| essv7012757 | Remapped | Perfect | NC_000005.9:g.(?_4 6209299)_(46278212 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,209,299 | 46,278,212 |
| essv7012758 | Remapped | Perfect | NC_000005.9:g.(?_4 6209299)_(46389273 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,209,299 | 46,389,273 |
| essv7012759 | Remapped | Perfect | NC_000005.9:g.(?_4 6246513)_(46278212 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,246,513 | 46,278,212 |
| essv7012760 | Remapped | Perfect | NC_000005.9:g.(?_4 6251306)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,251,306 | 46,273,502 |
| essv7012761 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012762 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012763 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012764 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012765 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012767 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012768 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012769 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012770 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012771 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012772 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012773 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012774 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012775 | Remapped | Perfect | NC_000005.9:g.(?_4 6271008)_(46273502 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,271,008 | 46,273,502 |
| essv7012776 | Remapped | Perfect | NC_000005.9:g.(?_4 6377327)_(46389273 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 46,377,327 | 46,389,273 |
| essv7012752 | Submitted genomic | NC_000005.8:g.(?_4 5413035)_(46425030 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 45,413,035 | 46,425,030 | ||
| essv7012753 | Submitted genomic | NC_000005.8:g.(?_4 5867307)_(46425030 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 45,867,307 | 46,425,030 | ||
| essv7012754 | Submitted genomic | NC_000005.8:g.(?_4 6187588)_(46210621 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,187,588 | 46,210,621 | ||
| essv7012756 | Submitted genomic | NC_000005.8:g.(?_4 6231640)_(46235192 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,231,640 | 46,235,192 | ||
| essv7012757 | Submitted genomic | NC_000005.8:g.(?_4 6245056)_(46313969 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,245,056 | 46,313,969 | ||
| essv7012758 | Submitted genomic | NC_000005.8:g.(?_4 6245056)_(46425030 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,245,056 | 46,425,030 | ||
| essv7012759 | Submitted genomic | NC_000005.8:g.(?_4 6282270)_(46313969 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,282,270 | 46,313,969 | ||
| essv7012760 | Submitted genomic | NC_000005.8:g.(?_4 6287063)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,287,063 | 46,309,259 | ||
| essv7012761 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012762 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012763 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012764 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012765 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012767 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012768 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012769 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012770 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012771 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012772 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012773 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012774 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012775 | Submitted genomic | NC_000005.8:g.(?_4 6306765)_(46309259 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,306,765 | 46,309,259 | ||
| essv7012776 | Submitted genomic | NC_000005.8:g.(?_4 6413084)_(46425030 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 46,413,084 | 46,425,030 |