A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893971



Internal ID19184825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:83096792..83493129hg38UCSC Ensembl
Outerchr4:83096792..83493129hg38UCSC Ensembl
Innerchr4:84017945..84414282hg19UCSC Ensembl
Outerchr4:84017945..84414282hg19UCSC Ensembl
Innerchr4:84236969..84633306hg18UCSC Ensembl
Outerchr4:84236969..84633306hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38396338
hg19396338
hg18396338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788214
Samples
Known GenesCOQ2, FAM175A, HELQ, HPSE, MRPS18C, PLAC8
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893971
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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