A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639274



Internal ID6679369
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15534152, essv15534153
SamplesNA21135, NA20890
Known GenesDYNLRB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639274
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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