A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639588



Internal ID6679679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89532694..89597465hg38UCSC Ensembl
chr16:89599102..89663873hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3864772
hg1964772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15569840
SamplesNA21108
Known GenesCPNE7, RPL13, SNORD68, SPG7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639588
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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