A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9752520



Internal ID18380080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82652612..82652669hg38UCSC Ensembl
chr16:82686217..82686274hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3553773
Supporting Variants
Samples
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9752520
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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