A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14212678



Internal ID4214494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73869122..73891643hg38UCSC Ensembl
chr11:73580167..73602688hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3822522
hg1922522
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626824
Supporting Variants
SamplesHG02878
Known GenesCOA4, PAAF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14212678
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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