A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663290



Internal ID2896377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20855225..20872760hg38UCSC Ensembl
chr12:21008159..21025694hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3817536
hg1917536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6248415
SamplesHG01052
Known GenesSLCO1B3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663290
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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