A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443683



Internal ID14943950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82909479..82909527hg38UCSC Ensembl
Innerchr16:82909502..82909502hg38UCSC Ensembl
Outerchr16:82909454..82909550hg38UCSC Ensembl
chr16:82943084..82943132hg19UCSC Ensembl
Innerchr16:82943107..82943107hg19UCSC Ensembl
Outerchr16:82943059..82943155hg19UCSC Ensembl
chr16:81500585..81500633hg18UCSC Ensembl
Innerchr16:81500608..81500608hg18UCSC Ensembl
Outerchr16:81500560..81500656hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38261
hg19261
hg18261
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8970895, essv8970894, essv8970897, essv8970896
SamplesNA12751, NA18564, NA11992, NA12717
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443683
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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