A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15365733



Internal ID5367549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6891739..6929268hg38UCSC Ensembl
Innerchr16:6891779..6929228hg38UCSC Ensembl
Outerchr16:6891699..6929308hg38UCSC Ensembl
chr16:6941740..6979269hg19UCSC Ensembl
Innerchr16:6941780..6979229hg19UCSC Ensembl
Outerchr16:6941700..6979309hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3837530
hg1937530
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637776
Supporting Variants
SamplesHG00513
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15365733
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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