A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639278



Internal ID6679373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80588688..80654516hg38UCSC Ensembl
chr16:80622585..80688413hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3865829
hg1965829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv542e214
Supporting Variantsessv15534161
SamplesNA18599
Known GenesCDYL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639278
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer