A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444399



Internal ID15291352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115522339..115522371hg38UCSC Ensembl
Innerchr5:115522353..115522355hg38UCSC Ensembl
Outerchr5:115522325..115522385hg38UCSC Ensembl
chr5:114858036..114858068hg19UCSC Ensembl
Innerchr5:114858050..114858052hg19UCSC Ensembl
Outerchr5:114858022..114858082hg19UCSC Ensembl
chr5:114885935..114885967hg18UCSC Ensembl
Innerchr5:114885949..114885951hg18UCSC Ensembl
Outerchr5:114885921..114885981hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38264
hg19264
hg18264
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8926241
SamplesNA18505
Known GenesFEM1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444399
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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