A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675319



Internal ID9594738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:116865291..116866489hg38UCSC Ensembl
Outerchr11:116865134..116866642hg38UCSC Ensembl
Innerchr11:116736007..116737205hg19UCSC Ensembl
Outerchr11:116735850..116737358hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381509
hg191509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv245e199
Supporting Variantsessv5597364, essv5820156, essv5751791, essv6200730
SamplesNA20760, HG01334, HG00254, HG01061
Known GenesSIK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675319
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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