A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15534155



Internal ID5170401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80565677..80642767hg38UCSC Ensembl
chr16:80599574..80676664hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3877091
hg1977091
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639275
Supporting Variants
SamplesNA18599
Known GenesCDYL2, LOC101928276
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15534155
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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