A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15534161



Internal ID5535977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80588688..80654516hg38UCSC Ensembl
chr16:80622585..80688413hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3865829
hg1965829
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639278
Supporting Variants
SamplesNA18599
Known GenesCDYL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15534161
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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