A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34251



Internal ID12643604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77609516..77833713hg38UCSC Ensembl
Innerchr10:79369274..79593471hg19UCSC Ensembl
Innerchr10:79039280..79263477hg18UCSC Ensembl
Innerchr10:79039280..79263477hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38224198
hg19224198
hg18224198
hg17224198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979806, essv6979807, essv6990410, essv6986951, essv6979805
SamplesNA18633
Known GenesDLG5, KCNMA1
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)esv34251
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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