A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751129



Internal ID12637995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111012360..111119530hg38UCSC Ensembl
Innerchr13:111664707..111771877hg19UCSC Ensembl
Innerchr13:110462708..110569878hg18UCSC Ensembl
Innerchr13:110462708..110569878hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38107171
hg19107171
hg18107171
hg17107171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984900, essv6984901, essv6984899, essv6987708
SamplesSPC_192
Known GenesARHGEF7
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)esv2751129
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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