A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14292106



Internal ID4293922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116853047..116856370hg38UCSC Ensembl
Innerchr11:116853047..116856370hg38UCSC Ensembl
Outerchr11:116852885..116856572hg38UCSC Ensembl
chr11:116723763..116727086hg19UCSC Ensembl
Innerchr11:116723763..116727086hg19UCSC Ensembl
Outerchr11:116723601..116727288hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383324
hg193324
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627836
Supporting Variants
SamplesHG03775
Known GenesSIK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14292106
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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