A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1467747



Internal ID12284183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6373370..6373370hg38UCSC Ensembl
chr16:6423371..6423371hg19UCSC Ensembl
chr16:6363372..6363372hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38309
hg19309
hg18309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3777372
SamplesHuRef
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1467747
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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