A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14085507



Internal ID5470058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33282961..33296871hg38UCSC Ensembl
chr11:33304507..33318417hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3813911
hg1913911
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625877
Supporting Variants
SamplesNA18973
Known GenesHIPK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14085507
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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