A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5437744



Internal ID8415147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83774899..83775477hg38UCSC Ensembl
chr16:83808504..83809082hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666182
Supporting Variants
SamplesHG00513
Known GenesCDH13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5437744
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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