A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656923



Internal ID9923028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:5180387..5181043hg38UCSC Ensembl
Outerchr20:5180341..5181099hg38UCSC Ensembl
Innerchr20:5161033..5161689hg19UCSC Ensembl
Outerchr20:5160987..5161745hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38759
hg19759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5914528, essv5702290
SamplesNA19374, NA19707
Known GenesCDS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656923
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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