A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990368



Internal ID12633539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46598659..46650060hg38UCSC Ensembl
Innerchr21:48018572..48069972hg19UCSC Ensembl
Innerchr21:46843000..46894400hg18UCSC Ensembl
Innerchr21:46843000..46894400hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851402
hg1951401
hg1851401
hg1751401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34393
Supporting Variants
SamplesNA18561
Known GenesPRMT2, S100B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990368
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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