A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994647



Internal ID7079182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32719059..32725817hg38UCSC Ensembl
Outerchr20:31306861..31313624hg19UCSC Ensembl
Outerchr20:30770522..30777285hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg386759
hg196764
hg186764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564999
SamplesHuRef
Known GenesCOMMD7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994647
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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