A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659005



Internal ID9578424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63488583..63497617hg38UCSC Ensembl
chr14:63955301..63964335hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg389035
hg199035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5890508, essv5442682, essv6459431, essv5985575, essv5935858
SamplesHG00231, NA12003, NA19788, HG00140, NA20803
Known GenesPPP2R5E
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659005
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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