A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34396



Internal ID12643749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133456451..133608615hg38UCSC Ensembl
Innerchr10:135269955..135422119hg19UCSC Ensembl
Innerchr10:135119945..135272109hg18UCSC Ensembl
Innerchr10:135158836..135311000hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38152165
hg19152165
hg18152165
hg17152165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv36e55
Supporting Variantsessv6979856, essv6979853, essv6979854, essv6979855
SamplesNA18854
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
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)esv34396
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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