A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992566



Internal ID6728528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6838489..6840395hg38UCSC Ensembl
Outerchr16:6888490..6890396hg19UCSC Ensembl
Outerchr16:6828491..6830397hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg382865
hg192865
hg182865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563674
SamplesHuRef
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992566
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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