A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv542e214



Internal ID20121965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80565677..80654516hg38UCSC Ensembl
chr16:80599574..80688413hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3888840
hg1988840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3639278, esv3639275
SamplesNA18599, HG01670
Known GenesCDYL2, LOC101928276
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv542e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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