A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985933



Internal ID12984266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36112644..36220443hg38UCSC Ensembl
Innerchr21:37484942..37592741hg19UCSC Ensembl
Innerchr21:36406812..36514611hg18UCSC Ensembl
Innerchr21:36406812..36514611hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38107800
hg19107800
hg18107800
hg17107800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751928
Supporting Variants
SamplesSPC_86
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985933
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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