A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416809



Internal ID15263767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111321435..111321454hg38UCSC Ensembl
Innerchr5:111321431..111321458hg38UCSC Ensembl
Outerchr5:111321412..111321477hg38UCSC Ensembl
chr5:110657133..110657152hg19UCSC Ensembl
Innerchr5:110657129..110657156hg19UCSC Ensembl
Outerchr5:110657110..110657175hg19UCSC Ensembl
chr5:110685032..110685051hg18UCSC Ensembl
Innerchr5:110685055..110685028hg18UCSC Ensembl
Outerchr5:110685009..110685074hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678925
SamplesNA19240
Known GenesCAMK4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416809
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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