A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15364739



Internal ID5366555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6112985..6115092hg38UCSC Ensembl
Innerchr16:6112985..6115092hg38UCSC Ensembl
Outerchr16:6112606..6115330hg38UCSC Ensembl
chr16:6162986..6165093hg19UCSC Ensembl
Innerchr16:6162986..6165093hg19UCSC Ensembl
Outerchr16:6162607..6165331hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382108
hg192108
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637739
Supporting Variants
SamplesNA18624
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15364739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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