A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669734



Internal ID9935839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13136145..13146786hg38UCSC Ensembl
chr8:12993654..13004295hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3810642
hg1910642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5955300
SamplesNA18606
Known GenesDLC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669734
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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