A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12033659



Internal ID6428658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119316346..119350100hg38UCSC Ensembl
chr5:118652041..118685795hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3833755
hg1933755
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606482
Supporting Variants
SamplesNA20504
Known GenesTNFAIP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12033659
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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