A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788214



Internal ID18831125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:83096792..83493129hg38UCSC Ensembl
Innerchr4:84017945..84414282hg19UCSC Ensembl
Innerchr4:84236969..84633306hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38396338
hg19396338
hg18396338
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893971
Supporting Variants
Samples
Known GenesCOQ2, FAM175A, HELQ, HPSE, MRPS18C, PLAC8
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=78
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788214
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer