A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666110



Internal ID9932215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:67041787..67042296hg38UCSC Ensembl
Outerchr5:67041750..67042346hg38UCSC Ensembl
Innerchr5:66337615..66338124hg19UCSC Ensembl
Outerchr5:66337578..66338174hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5818839, essv5410627
SamplesNA19776, NA20773
Known GenesMAST4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666110
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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