esv2760526
- 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:55,241
- 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: 396 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 83 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2760526 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 49,115,521 | 49,170,761 |
| esv2760526 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 49,618,778 | 49,674,018 |
| esv2760526 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 54,310,590 | 54,365,830 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7025781 | copy number gain | RW_0060 | SNP array | SNP genotyping analysis | 51 |
| essv7025782 | copy number gain | RW_0061 | SNP array | SNP genotyping analysis | 54 |
| essv7025783 | copy number gain | RW_0095 | SNP array | SNP genotyping analysis | 42 |
| essv7025784 | copy number gain | RW_0186 | SNP array | SNP genotyping analysis | 74 |
| essv7025785 | copy number gain | RW_0226 | SNP array | SNP genotyping analysis | 58 |
| essv7025786 | copy number gain | RW_0260 | SNP array | SNP genotyping analysis | 46 |
| essv7025787 | copy number gain | RW_0533 | SNP array | SNP genotyping analysis | 41 |
| essv7025788 | copy number gain | RW_0544 | SNP array | SNP genotyping analysis | 52 |
| essv7025790 | copy number gain | RW_0599 | SNP array | SNP genotyping analysis | 68 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7025781 | Remapped | Perfect | NC_000019.10:g.(?_ 49115521)_(4917076 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,115,521 | 49,170,761 |
| essv7025782 | Remapped | Perfect | NC_000019.10:g.(?_ 49137037)_(4917076 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,137,037 | 49,170,761 |
| essv7025783 | Remapped | Perfect | NC_000019.10:g.(?_ 49137037)_(4917076 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,137,037 | 49,170,761 |
| essv7025784 | Remapped | Perfect | NC_000019.10:g.(?_ 49137037)_(4917076 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,137,037 | 49,170,761 |
| essv7025785 | Remapped | Perfect | NC_000019.10:g.(?_ 49137037)_(4917076 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,137,037 | 49,170,761 |
| essv7025786 | Remapped | Perfect | NC_000019.10:g.(?_ 49137037)_(4917076 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,137,037 | 49,170,761 |
| essv7025787 | Remapped | Perfect | NC_000019.10:g.(?_ 49137037)_(4917076 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,137,037 | 49,170,761 |
| essv7025788 | Remapped | Perfect | NC_000019.10:g.(?_ 49137037)_(4917076 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,137,037 | 49,170,761 |
| essv7025790 | Remapped | Perfect | NC_000019.10:g.(?_ 49137037)_(4917076 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,137,037 | 49,170,761 |
| essv7025781 | Remapped | Perfect | NC_000019.9:g.(?_4 9618778)_(49674018 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 49,618,778 | 49,674,018 |
| essv7025782 | Remapped | Perfect | NC_000019.9:g.(?_4 9640294)_(49674018 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 49,640,294 | 49,674,018 |
| essv7025783 | Remapped | Perfect | NC_000019.9:g.(?_4 9640294)_(49674018 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 49,640,294 | 49,674,018 |
| essv7025784 | Remapped | Perfect | NC_000019.9:g.(?_4 9640294)_(49674018 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 49,640,294 | 49,674,018 |
| essv7025785 | Remapped | Perfect | NC_000019.9:g.(?_4 9640294)_(49674018 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 49,640,294 | 49,674,018 |
| essv7025786 | Remapped | Perfect | NC_000019.9:g.(?_4 9640294)_(49674018 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 49,640,294 | 49,674,018 |
| essv7025787 | Remapped | Perfect | NC_000019.9:g.(?_4 9640294)_(49674018 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 49,640,294 | 49,674,018 |
| essv7025788 | Remapped | Perfect | NC_000019.9:g.(?_4 9640294)_(49674018 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 49,640,294 | 49,674,018 |
| essv7025790 | Remapped | Perfect | NC_000019.9:g.(?_4 9640294)_(49674018 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 49,640,294 | 49,674,018 |
| essv7025781 | Submitted genomic | NC_000019.8:g.(?_5 4310590)_(54365830 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 54,310,590 | 54,365,830 | ||
| essv7025782 | Submitted genomic | NC_000019.8:g.(?_5 4332106)_(54365830 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 54,332,106 | 54,365,830 | ||
| essv7025783 | Submitted genomic | NC_000019.8:g.(?_5 4332106)_(54365830 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 54,332,106 | 54,365,830 | ||
| essv7025784 | Submitted genomic | NC_000019.8:g.(?_5 4332106)_(54365830 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 54,332,106 | 54,365,830 | ||
| essv7025785 | Submitted genomic | NC_000019.8:g.(?_5 4332106)_(54365830 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 54,332,106 | 54,365,830 | ||
| essv7025786 | Submitted genomic | NC_000019.8:g.(?_5 4332106)_(54365830 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 54,332,106 | 54,365,830 | ||
| essv7025787 | Submitted genomic | NC_000019.8:g.(?_5 4332106)_(54365830 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 54,332,106 | 54,365,830 | ||
| essv7025788 | Submitted genomic | NC_000019.8:g.(?_5 4332106)_(54365830 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 54,332,106 | 54,365,830 | ||
| essv7025790 | Submitted genomic | NC_000019.8:g.(?_5 4332106)_(54365830 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 54,332,106 | 54,365,830 |