A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639192



Internal ID6679287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:78117287..78139115hg38UCSC Ensembl
Innerchr16:78117437..78138965hg38UCSC Ensembl
Outerchr16:78117137..78139265hg38UCSC Ensembl
chr16:78151184..78173012hg19UCSC Ensembl
Innerchr16:78151334..78172862hg19UCSC Ensembl
Outerchr16:78151034..78173162hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3821829
hg1921829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv539e214
Supporting Variantsessv15528515, essv15528516, essv15528517
SamplesHG03100, HG02489, NA19468
Known GenesWWOX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639192
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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