A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667239



Internal ID9933344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90106897..90109054hg38UCSC Ensembl
chr14:90573241..90575398hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg382158
hg192158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5609691
SamplesNA20803
Known GenesKCNK13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667239
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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