A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635362



Internal ID7022161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93639008..93743667hg38UCSC Ensembl
chr14:94105354..94210013hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38104660
hg19104660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15099856
SamplesNA06984
Known GenesPRIMA1, UNC79
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635362
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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