A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009215



Internal ID6721319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6859120..6859186hg38UCSC Ensembl
chr16:6909121..6909187hg19UCSC Ensembl
chr16:6849122..6849188hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3570749
SamplesHuRef
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009215
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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