A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429289



Internal ID14929559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82878505..82878510hg38UCSC Ensembl
Innerchr16:82878496..82878517hg38UCSC Ensembl
Outerchr16:82878491..82878522hg38UCSC Ensembl
chr16:82912110..82912115hg19UCSC Ensembl
Innerchr16:82912101..82912122hg19UCSC Ensembl
Outerchr16:82912096..82912127hg19UCSC Ensembl
chr16:81469611..81469616hg18UCSC Ensembl
Innerchr16:81469623..81469602hg18UCSC Ensembl
Outerchr16:81469597..81469628hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673368, essv8673369, essv8673371, essv8673370, essv8673372
SamplesNA19239, NA12892, NA19238, NA12878, NA19240
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429289
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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