A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586654



Internal ID6711350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46337719..46708394hg38UCSC Ensembl
Innerchr17:44415085..44785760hg19UCSC Ensembl
Innerchr17:41770843..42140941hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38370676
hg19370676
hg18370099
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003686
Supporting Variants
SamplesHuRef
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586654
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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