A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7734599



Internal ID14389394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82757551..82757552hg38UCSC Ensembl
Outerchr16:82757382..82757722hg38UCSC Ensembl
Innerchr16:82791156..82791157hg19UCSC Ensembl
Outerchr16:82790987..82791327hg19UCSC Ensembl
Innerchr16:81348658..81348657hg18UCSC Ensembl
Outerchr16:81348488..81348828hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38341
hg19341
hg18341
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303052
Supporting Variants
SamplesNA18973
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7734599
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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