A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14198539



Internal ID4200355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67742280..67808524hg38UCSC Ensembl
chr11:67509751..67575995hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3866245
hg1966245
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626722
Supporting Variants
SamplesHG02143
Known GenesFAM86C2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14198539
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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