A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638538



Internal ID7025323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46664981..46683269hg38UCSC Ensembl
chr16:46698893..46717181hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3818289
hg1918289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15471945, essv15471946
SamplesHG01841, HG01113
Known GenesVPS35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638538
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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