A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545352



Internal ID5547168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83466876..83467955hg38UCSC Ensembl
Innerchr16:83466906..83467926hg38UCSC Ensembl
Outerchr16:83466847..83467985hg38UCSC Ensembl
chr16:83500481..83501560hg19UCSC Ensembl
Innerchr16:83500511..83501531hg19UCSC Ensembl
Outerchr16:83500452..83501590hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639390
Supporting Variants
SamplesNA20534
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545352
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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