A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15365550



Internal ID5367366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6792563..6803841hg38UCSC Ensembl
Innerchr16:6792591..6803813hg38UCSC Ensembl
Outerchr16:6792535..6803869hg38UCSC Ensembl
chr16:6842564..6853842hg19UCSC Ensembl
Innerchr16:6842592..6853814hg19UCSC Ensembl
Outerchr16:6842536..6853870hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811279
hg1911279
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637768
Supporting Variants
SamplesHG03237
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15365550
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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