A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003136



Internal ID7068244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4533387..4533839hg38UCSC Ensembl
Innerchr17:4436682..4437134hg19UCSC Ensembl
Innerchr17:4383431..4383883hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38453
hg19453
hg18453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587072
SamplesHuRef
Known GenesSPNS2
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003136
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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