A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34393



Internal ID12643746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46595759..46657900hg38UCSC Ensembl
Innerchr21:48015672..48077812hg19UCSC Ensembl
Innerchr21:46840100..46902240hg18UCSC Ensembl
Innerchr21:46840100..46902240hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3862142
hg1962141
hg1862141
hg1762141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979466, essv6990368, essv6979468, essv6986875, essv6979467
SamplesNA18561
Known GenesPRMT2, S100B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34393
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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