A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674547



Internal ID9940652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118678445..118691359hg38UCSC Ensembl
chr11:118549154..118562068hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3812915
hg1912915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5583779, essv5960780, essv5922688, essv6339453, essv6391038, essv5938381, essv5556933, essv6172047, essv5830452, essv6436808
SamplesNA18599, NA18959, NA18489, HG00268, NA18534, NA19776, HG00126, NA19468, NA19213, NA19346
Known GenesTREH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674547
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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