esv32972
- 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:3,163
- 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: 280 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 280 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 4 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 |
---|---|---|---|---|---|---|---|---|---|
esv32972 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 58,613,424 | 58,616,586 |
esv32972 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 58,647,328 | 58,650,490 |
esv32972 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000016.8 | Chr16 | 57,204,829 | 57,207,991 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv101206 | copy number loss | 21618 | Oligo aCGH | Probe signal intensity | 173 |
essv101413 | copy number loss | 21805 | Oligo aCGH | Probe signal intensity | 154 |
essv101501 | copy number gain | 21603 | Oligo aCGH | Probe signal intensity | 188 |
essv92547 | copy number gain | 22233 | Oligo aCGH | Probe signal intensity | 161 |
essv92800 | copy number gain | 21944 | Oligo aCGH | Probe signal intensity | 167 |
essv93784 | copy number gain | 21972 | Oligo aCGH | Probe signal intensity | 197 |
essv94318 | copy number gain | 21808 | Oligo aCGH | Probe signal intensity | 172 |
essv94803 | copy number loss | 21791 | Oligo aCGH | Probe signal intensity | 198 |
essv94962 | copy number gain | 22231 | Oligo aCGH | Probe signal intensity | 206 |
essv95264 | copy number loss | 21872 | Oligo aCGH | Probe signal intensity | 177 |
essv96221 | copy number gain | 22007 | Oligo aCGH | Probe signal intensity | 166 |
essv96704 | copy number gain | 22011 | Oligo aCGH | Probe signal intensity | 172 |
essv97238 | copy number gain | 22075 | Oligo aCGH | Probe signal intensity | 208 |
essv97877 | copy number gain | 21837 | Oligo aCGH | Probe signal intensity | 179 |
essv98508 | copy number loss | 22352 | Oligo aCGH | Probe signal intensity | 185 |
essv99237 | copy number loss | 22275 | Oligo aCGH | Probe signal intensity | 224 |
essv100198 | copy number gain | 22286 | Oligo aCGH | Probe signal intensity | 177 |
essv94174 | copy number loss | 22394 | Oligo aCGH | Probe signal intensity | 161 |
essv99373 | copy number gain | 22335 | Oligo aCGH | Probe signal intensity | 206 |
essv101625 | copy number loss | 21909 | Oligo aCGH | Probe signal intensity | 171 |
essv93803 | copy number loss | 21634 | Oligo aCGH | Probe signal intensity | 176 |
essv95590 | copy number loss | 21841 | Oligo aCGH | Probe signal intensity | 196 |
essv95970 | copy number loss | 22127 | Oligo aCGH | Probe signal intensity | 152 |
essv98970 | copy number loss | 21938 | Oligo aCGH | Probe signal intensity | 201 |
essv99818 | copy number loss | 22086 | Oligo aCGH | Probe signal intensity | 362 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv101206 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv101413 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv101501 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv92547 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv92800 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv93784 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv94318 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv94803 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv94962 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv95264 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv96221 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv96704 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv97238 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv97877 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv98508 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv99237 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,615,721 | 58,616,586 |
essv100198 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58616586_58616655) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,616,586 | 58,616,655 |
essv94174 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58616586_58616655) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,616,586 | 58,616,655 |
essv99373 | Remapped | Perfect | NC_000016.10:g.(58 612791_58613424)_( 58616586_58616655) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,612,791 | 58,613,424 | 58,616,586 | 58,616,655 |
essv101625 | Remapped | Perfect | NC_000016.10:g.(58 613424_58613483)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,613,424 | 58,613,483 | 58,615,721 | 58,616,586 |
essv93803 | Remapped | Perfect | NC_000016.10:g.(58 613424_58613483)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,613,424 | 58,613,483 | 58,615,721 | 58,616,586 |
essv95590 | Remapped | Perfect | NC_000016.10:g.(58 613424_58613483)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,613,424 | 58,613,483 | 58,615,721 | 58,616,586 |
essv95970 | Remapped | Perfect | NC_000016.10:g.(58 613424_58613483)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,613,424 | 58,613,483 | 58,615,721 | 58,616,586 |
essv98970 | Remapped | Perfect | NC_000016.10:g.(58 613424_58613483)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,613,424 | 58,613,483 | 58,615,721 | 58,616,586 |
essv99818 | Remapped | Perfect | NC_000016.10:g.(58 613424_58613483)_( 58615721_58616586) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 58,613,424 | 58,613,483 | 58,615,721 | 58,616,586 |
essv101206 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv101413 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv101501 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv92547 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv92800 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv93784 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv94318 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv94803 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv94962 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv95264 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv96221 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv96704 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv97238 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv97877 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv98508 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv99237 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,649,625 | 58,650,490 |
essv100198 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8650490_58650559)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,650,490 | 58,650,559 |
essv94174 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8650490_58650559)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,650,490 | 58,650,559 |
essv99373 | Remapped | Perfect | NC_000016.9:g.(586 46695_58647328)_(5 8650490_58650559)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,646,695 | 58,647,328 | 58,650,490 | 58,650,559 |
essv101625 | Remapped | Perfect | NC_000016.9:g.(586 47328_58647387)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,647,328 | 58,647,387 | 58,649,625 | 58,650,490 |
essv93803 | Remapped | Perfect | NC_000016.9:g.(586 47328_58647387)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,647,328 | 58,647,387 | 58,649,625 | 58,650,490 |
essv95590 | Remapped | Perfect | NC_000016.9:g.(586 47328_58647387)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,647,328 | 58,647,387 | 58,649,625 | 58,650,490 |
essv95970 | Remapped | Perfect | NC_000016.9:g.(586 47328_58647387)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,647,328 | 58,647,387 | 58,649,625 | 58,650,490 |
essv98970 | Remapped | Perfect | NC_000016.9:g.(586 47328_58647387)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,647,328 | 58,647,387 | 58,649,625 | 58,650,490 |
essv99818 | Remapped | Perfect | NC_000016.9:g.(586 47328_58647387)_(5 8649625_58650490)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 58,647,328 | 58,647,387 | 58,649,625 | 58,650,490 |
essv101206 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv101413 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv101501 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv92547 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv92800 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv93784 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv94318 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv94803 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv94962 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv95264 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv96221 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv96704 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv97238 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv97877 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv98508 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv99237 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,126 | 57,207,991 | ||
essv100198 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207991_57208060)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,991 | 57,208,060 | ||
essv94174 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207991_57208060)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,991 | 57,208,060 | ||
essv99373 | Submitted genomic | NC_000016.8:g.(572 04196_57204829)_(5 7207991_57208060)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,196 | 57,204,829 | 57,207,991 | 57,208,060 | ||
essv101625 | Submitted genomic | NC_000016.8:g.(572 04829_57204888)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,829 | 57,204,888 | 57,207,126 | 57,207,991 | ||
essv93803 | Submitted genomic | NC_000016.8:g.(572 04829_57204888)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,829 | 57,204,888 | 57,207,126 | 57,207,991 | ||
essv95590 | Submitted genomic | NC_000016.8:g.(572 04829_57204888)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,829 | 57,204,888 | 57,207,126 | 57,207,991 | ||
essv95970 | Submitted genomic | NC_000016.8:g.(572 04829_57204888)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,829 | 57,204,888 | 57,207,126 | 57,207,991 | ||
essv98970 | Submitted genomic | NC_000016.8:g.(572 04829_57204888)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,829 | 57,204,888 | 57,207,126 | 57,207,991 | ||
essv99818 | Submitted genomic | NC_000016.8:g.(572 04829_57204888)_(5 7207126_57207991)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 57,204,829 | 57,204,888 | 57,207,126 | 57,207,991 |