A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334036



Internal ID14834309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83374708..83374727hg38UCSC Ensembl
Innerchr16:83374704..83374731hg38UCSC Ensembl
Outerchr16:83374685..83374750hg38UCSC Ensembl
chr16:83408313..83408332hg19UCSC Ensembl
Innerchr16:83408309..83408336hg19UCSC Ensembl
Outerchr16:83408290..83408355hg19UCSC Ensembl
chr16:81965814..81965833hg18UCSC Ensembl
Innerchr16:81965837..81965810hg18UCSC Ensembl
Outerchr16:81965791..81965856hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9672491
SamplesNA11881
Known GenesCDH13
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334036
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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