A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501765



Internal ID5503581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68752755..68761780hg38UCSC Ensembl
chr16:68786658..68795683hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg389026
hg199026
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638911
Supporting Variants
SamplesNA20287
Known GenesCDH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501765
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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