A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638195



Internal ID6678293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22082786..22273655hg38UCSC Ensembl
chr16:22094107..22284976hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38190870
hg19190870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15416365
SamplesHG01094
Known GenesC16orf52, EEF2K, VWA3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638195
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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