A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751135



Internal ID12638001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22932509..23201361hg38UCSC Ensembl
Innerchr13:23506648..23775500hg19UCSC Ensembl
Innerchr13:22404648..22673500hg18UCSC Ensembl
Innerchr13:22404648..22673500hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38268853
hg19268853
hg18268853
hg17268853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984248, essv6984251, essv6984250, essv6984249, essv6984247
SamplesBEC_681
Known GenesSGCG
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)esv2751135
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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