A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988126



Internal ID7060426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191346846..191353843hg38UCSC Ensembl
Innerchr3:191064635..191071632hg19UCSC Ensembl
Innerchr3:192547329..192554326hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg386998
hg196998
hg186998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114e180
Supporting Variantsessv3586200
SamplesHuRef
Known GenesCCDC50
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988126
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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