A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994210



Internal ID7063005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:158751307..158754022hg38UCSC Ensembl
Innerchr5:158178315..158181030hg19UCSC Ensembl
Innerchr5:158110893..158113608hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382716
hg192716
hg182716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv153e180
Supporting Variantsessv3586757
SamplesHuRef
Known GenesEBF1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994210
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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