A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672530



Internal ID9938635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33586741..33597475hg38UCSC Ensembl
Outerchr20:33586584..33597628hg38UCSC Ensembl
Innerchr20:32174547..32185281hg19UCSC Ensembl
Outerchr20:32174390..32185434hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3811045
hg1911045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6483522
SamplesNA18636
Known GenesCBFA2T2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672530
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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