A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15534152



Internal ID5535968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80539025..80545314hg38UCSC Ensembl
Innerchr16:80539054..80545286hg38UCSC Ensembl
Outerchr16:80538997..80545343hg38UCSC Ensembl
chr16:80572922..80579211hg19UCSC Ensembl
Innerchr16:80572951..80579183hg19UCSC Ensembl
Outerchr16:80572894..80579240hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg386290
hg196290
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639274
Supporting Variants
SamplesNA20890
Known GenesDYNLRB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15534152
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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