A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003562



Internal ID7068667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50125396..50125845hg38UCSC Ensembl
Innerchr17:48202760..48203209hg19UCSC Ensembl
Innerchr17:45557759..45558208hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38450
hg19450
hg18450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586915
SamplesHuRef
Known GenesSAMD14
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003562
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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