A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5950022



Internal ID9434843
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 Flag1
Merged StatusS
Merged Variantsesv2676812
Supporting Variants
SamplesNA18635
Known GenesMAST4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5950022
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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