A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671437



Internal ID9937542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53722740..53725684hg38UCSC Ensembl
chr20:52339279..52342223hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382945
hg192945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5627861
SamplesNA19399
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671437
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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