A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668866



Internal ID9588285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45796257..45804171hg38UCSC Ensembl
chr2:46023396..46031310hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387915
hg197915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5546924
SamplesHG00311
Known GenesPRKCE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668866
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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