esv32969
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:25
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,294
- Publication(s):de Smith et al. 2007
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: 2603 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2603 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 732 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 | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
esv32969 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,258,150 | 78,325,443 |
esv32969 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,967,867 | 79,035,160 |
esv32969 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 79,024,586 | 79,091,879 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv100567 | copy number loss | 22298 | Oligo aCGH | Probe signal intensity | 176 |
essv100720 | copy number loss | 21656 | Oligo aCGH | Probe signal intensity | 288 |
essv101199 | copy number loss | 21618 | Oligo aCGH | Probe signal intensity | 173 |
essv101465 | copy number loss | 21603 | Oligo aCGH | Probe signal intensity | 188 |
essv92607 | copy number loss | 22233 | Oligo aCGH | Probe signal intensity | 161 |
essv92798 | copy number loss | 21944 | Oligo aCGH | Probe signal intensity | 167 |
essv93085 | copy number loss | 21863 | Oligo aCGH | Probe signal intensity | 176 |
essv93609 | copy number loss | 21972 | Oligo aCGH | Probe signal intensity | 197 |
essv93821 | copy number loss | 21634 | Oligo aCGH | Probe signal intensity | 176 |
essv94103 | copy number loss | 21802 | Oligo aCGH | Probe signal intensity | 176 |
essv94275 | copy number loss | 22394 | Oligo aCGH | Probe signal intensity | 161 |
essv94634 | copy number loss | 21932 | Oligo aCGH | Probe signal intensity | 171 |
essv94674 | copy number loss | 21791 | Oligo aCGH | Probe signal intensity | 198 |
essv95011 | copy number loss | 22231 | Oligo aCGH | Probe signal intensity | 206 |
essv95491 | copy number loss | 21847 | Oligo aCGH | Probe signal intensity | 152 |
essv95706 | copy number loss | 21841 | Oligo aCGH | Probe signal intensity | 196 |
essv96218 | copy number loss | 22007 | Oligo aCGH | Probe signal intensity | 166 |
essv97002 | copy number loss | 21817 | Oligo aCGH | Probe signal intensity | 201 |
essv97166 | copy number loss | 22075 | Oligo aCGH | Probe signal intensity | 208 |
essv97464 | copy number loss | 21616 | Oligo aCGH | Probe signal intensity | 158 |
essv97717 | copy number loss | 22278 | Oligo aCGH | Probe signal intensity | 179 |
essv98538 | copy number loss | 22085 | Oligo aCGH | Probe signal intensity | 128 |
essv99266 | copy number loss | 22275 | Oligo aCGH | Probe signal intensity | 224 |
essv99709 | copy number loss | 22217 | Oligo aCGH | Probe signal intensity | 182 |
essv98784 | copy number loss | 21606 | Oligo aCGH | Probe signal intensity | 282 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv100567 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv100720 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv101199 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv101465 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv92607 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv92798 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv93085 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv93609 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv93821 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv94103 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv94275 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv94634 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv94674 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv95011 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv95491 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv95706 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv96218 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv97002 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv97166 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv97464 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv97717 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv98538 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv99266 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv99709 | Remapped | Perfect | NC_000006.12:g.(78 255593_78258150)_( 78325443_78327859) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,593 | 78,258,150 | 78,325,443 | 78,327,859 |
essv98784 | Remapped | Perfect | NC_000006.12:g.(78 276088_78284293)_( 78285125_78290271) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,276,088 | 78,284,293 | 78,285,125 | 78,290,271 |
essv100567 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv100720 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv101199 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv101465 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv92607 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv92798 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv93085 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv93609 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv93821 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv94103 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv94275 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv94634 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv94674 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv95011 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv95491 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv95706 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv96218 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv97002 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv97166 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv97464 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv97717 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv98538 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv99266 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv99709 | Remapped | Perfect | NC_000006.11:g.(78 965310_78967867)_( 79035160_79037576) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,310 | 78,967,867 | 79,035,160 | 79,037,576 |
essv98784 | Remapped | Perfect | NC_000006.11:g.(78 985805_78994010)_( 78994842_78999988) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,985,805 | 78,994,010 | 78,994,842 | 78,999,988 |
essv100567 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv100720 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv101199 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv101465 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv92607 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv92798 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv93085 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv93609 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv93821 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv94103 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv94275 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv94634 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv94674 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv95011 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv95491 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv95706 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv96218 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv97002 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv97166 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv97464 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv97717 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv98538 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv99266 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv99709 | Submitted genomic | NC_000006.9:g.(790 22029_79024586)_(7 9091879_79094295)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,022,029 | 79,024,586 | 79,091,879 | 79,094,295 | ||
essv98784 | Submitted genomic | NC_000006.9:g.(790 42524_79050729)_(7 9051561_79056707)d el | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,042,524 | 79,050,729 | 79,051,561 | 79,056,707 |