A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674913



Internal ID9594332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46026858..46031277hg38UCSC Ensembl
chr2:46253997..46258416hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384420
hg194420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6571635, essv5781070
SamplesNA20508, NA20513
Known GenesPRKCE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674913
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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