A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14223526



Internal ID2351382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:87068041..87192374hg38UCSC Ensembl
chr11:86779083..86903416hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38124334
hg19124334
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627114
Supporting Variants
SamplesHG02085
Known GenesTMEM135
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14223526
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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