A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659940



Internal ID9579359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125205501..125215741hg38UCSC Ensembl
chr11:125075397..125085637hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3810241
hg1910241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6562916, essv6506996, essv5749463, essv6177803, essv6175679
SamplesNA20535, NA06989, HG00117, NA11933, HG00124
Known GenesPKNOX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659940
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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