A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5518909



Internal ID8496312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117310194..117312214hg38UCSC Ensembl
chr11:117180910..117182930hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382021
hg192021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672663
Supporting Variants
SamplesHG00689
Known GenesBACE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5518909
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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