A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304986



Internal ID15151934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111321457..111321458hg38UCSC Ensembl
Innerchr5:111321405..111321510hg38UCSC Ensembl
Outerchr5:111321404..111321511hg38UCSC Ensembl
chr5:110657155..110657156hg19UCSC Ensembl
Innerchr5:110657103..110657208hg19UCSC Ensembl
Outerchr5:110657102..110657209hg19UCSC Ensembl
chr5:110685054..110685055hg18UCSC Ensembl
Innerchr5:110685107..110685002hg18UCSC Ensembl
Outerchr5:110685001..110685108hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746175, essv7744830, essv7759174, essv7760335
SamplesNA18508, NA19190, NA19240, NA19116
Known GenesCAMK4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304986
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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