A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980050



Internal ID12634488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189756952..190009739hg38UCSC Ensembl
Innerchr4:190678106..190930894hg19UCSC Ensembl
Innerchr4:190915100..191167888hg18UCSC Ensembl
Innerchr4:191053255..191306043hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38252788
hg19252789
hg18252789
hg17252789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34388
Supporting Variants
SamplesNA18945
Known GenesFRG1, LOC283788
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980050
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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