A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13987616



Internal ID3989482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:195766..233956hg38UCSC Ensembl
chr11:195766..233956hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3838191
hg1938191
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625061
Supporting Variants
SamplesHG01794
Known GenesBET1L, MIR6743, ODF3, RIC8A, SIRT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13987616
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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