A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553786



Internal ID18408176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83580436..83580510hg38UCSC Ensembl
chr16:83614041..83614115hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752533
Samples
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553786
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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