A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639380



Internal ID6679474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83080498..83099434hg38UCSC Ensembl
Innerchr16:83080498..83099434hg38UCSC Ensembl
Outerchr16:83079998..83099934hg38UCSC Ensembl
chr16:83114103..83133039hg19UCSC Ensembl
Innerchr16:83114103..83133039hg19UCSC Ensembl
Outerchr16:83113603..83133539hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3818937
hg1918937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15544637
SamplesNA19785
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639380
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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