A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440391



Internal ID15287344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107944176..107944186hg38UCSC Ensembl
Innerchr5:107944170..107944190hg38UCSC Ensembl
Outerchr5:107944162..107944200hg38UCSC Ensembl
chr5:107279877..107279887hg19UCSC Ensembl
Innerchr5:107279871..107279891hg19UCSC Ensembl
Outerchr5:107279863..107279901hg19UCSC Ensembl
chr5:107307776..107307786hg18UCSC Ensembl
Innerchr5:107307790..107307770hg18UCSC Ensembl
Outerchr5:107307762..107307800hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38262
hg19262
hg18262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675739, essv8675738
SamplesNA19239, NA19240
Known GenesFBXL17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440391
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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