A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303799



Internal ID14804061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2801660..2801661hg38UCSC Ensembl
Innerchr3:2801623..2801698hg38UCSC Ensembl
Outerchr3:2801622..2801699hg38UCSC Ensembl
chr3:2843344..2843345hg19UCSC Ensembl
Innerchr3:2843307..2843382hg19UCSC Ensembl
Outerchr3:2843306..2843383hg19UCSC Ensembl
chr3:2818344..2818345hg18UCSC Ensembl
Innerchr3:2818382..2818307hg18UCSC Ensembl
Outerchr3:2818306..2818383hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761308, essv7741181, essv7745586, essv7740512
SamplesNA18517, NA19147, NA18504, NA18499
Known GenesCNTN4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303799
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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