A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752282



Internal ID12639148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135225315..135442209hg38UCSC Ensembl
Innerchr9:138117161..138334055hg19UCSC Ensembl
Innerchr9:137256982..137473876hg18UCSC Ensembl
Innerchr9:135343106..135560000hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38216895
hg19216895
hg18216895
hg17216895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv263e55
Supporting Variantsessv6981651, essv6981652, essv6988432, essv6985628
SamplesBEC_311
Known GenesC9orf62
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)esv2752282
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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