A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15726447



Internal ID4014597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66796889..66831524hg38UCSC Ensembl
chr17:64793007..64827642hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3834636
hg1934636
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641072
Supporting Variants
SamplesHG03668
Known GenesPRKCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15726447
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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