A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15364821



Internal ID5366637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6708703..6712424hg38UCSC Ensembl
Innerchr16:6708744..6712383hg38UCSC Ensembl
Outerchr16:6708662..6712465hg38UCSC Ensembl
chr16:6758704..6762425hg19UCSC Ensembl
Innerchr16:6758745..6762384hg19UCSC Ensembl
Outerchr16:6758663..6762466hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383722
hg193722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637758
Supporting Variants
SamplesNA20522
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15364821
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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