A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992120



Internal ID7077794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:59743266..59754874hg38UCSC Ensembl
Outerchr20:58318321..58329929hg19UCSC Ensembl
Outerchr20:57751716..57763324hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3811609
hg1911609
hg1811609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565628
SamplesHuRef
Known GenesPHACTR3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992120
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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