A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979466



Internal ID12633547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46595759..46657860hg38UCSC Ensembl
Innerchr21:48015672..48077772hg19UCSC Ensembl
Innerchr21:46840100..46902200hg18UCSC Ensembl
Innerchr21:46840100..46902200hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3862102
hg1962101
hg1862101
hg1762101
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979466
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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