A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15365828



Internal ID5367644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7012017..7032782hg38UCSC Ensembl
Innerchr16:7012017..7032782hg38UCSC Ensembl
Outerchr16:7011777..7033022hg38UCSC Ensembl
chr16:7062018..7082783hg19UCSC Ensembl
Innerchr16:7062018..7082783hg19UCSC Ensembl
Outerchr16:7061778..7083023hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3820766
hg1920766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637788
Supporting Variants
SamplesNA19011
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15365828
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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