A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15528516



Internal ID5530332
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639192
Supporting Variants
SamplesHG03100
Known GenesWWOX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15528516
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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