A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308310



Internal ID14808572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82878499..82878500hg38UCSC Ensembl
Innerchr16:82878483..82878516hg38UCSC Ensembl
Outerchr16:82878482..82878517hg38UCSC Ensembl
chr16:82912104..82912105hg19UCSC Ensembl
Innerchr16:82912088..82912121hg19UCSC Ensembl
Outerchr16:82912087..82912122hg19UCSC Ensembl
chr16:81469605..81469606hg18UCSC Ensembl
Innerchr16:81469622..81469589hg18UCSC Ensembl
Outerchr16:81469588..81469623hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38187
hg19187
hg18187
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842700, essv7840410, essv7843375, essv7841839, essv7841050
SamplesNA19239, NA12892, NA19238, NA12878, NA19240
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308310
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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