A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv114e180



Internal ID22757524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191346846..191353860hg38UCSC Ensembl
chr3:191064635..191071649hg19UCSC Ensembl
chr3:192547329..192554343hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387015
hg197015
hg187015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv999982, esv988126
SamplesHuRef
Known GenesCCDC50
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)dgv114e180
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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