A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1283590



Internal ID12100026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6859120..6859174hg38UCSC Ensembl
chr16:6909121..6909175hg19UCSC Ensembl
chr16:6849122..6849176hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4350715
SamplesHuRef
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1283590
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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