A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641064



Internal ID6681149
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15725833, essv15725832, essv15725834
SamplesHG02360, HG04144, HG02054
Known GenesPRKCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641064
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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