A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676812



Internal ID9942917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66769392..66772498hg38UCSC Ensembl
chr5:66065220..66068326hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg383107
hg193107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5950022
SamplesNA18635
Known GenesMAST4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676812
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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