A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672663



Internal ID9592082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117310194..117312214hg38UCSC Ensembl
chr11:117180910..117182930hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382021
hg192021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6569608, essv5518909, essv5523460, essv6293258, essv6051663, essv5912435
SamplesHG00565, NA19003, NA18545, HG00701, HG00689, NA18973
Known GenesBACE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672663
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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