A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586948



Internal ID7058330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191346852..191353860hg38UCSC Ensembl
Innerchr3:191064641..191071649hg19UCSC Ensembl
Innerchr3:192547335..192554343hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387009
hg197009
hg187009
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999982
Supporting Variants
SamplesHuRef
Known GenesCCDC50
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586948
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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