A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15725832



Internal ID5727648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66308660..66312159hg38UCSC Ensembl
chr17:64304778..64308277hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641064
Supporting Variants
SamplesHG02054
Known GenesPRKCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15725832
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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