A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548346



Internal ID18402736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111352963..111353023hg38UCSC Ensembl
chr11:111223688..111223748hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747093
Samples
Known GenesPOU2AF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548346
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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