A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1442422



Internal ID12258858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6693280..6693760hg38UCSC Ensembl
chr16:6743281..6743761hg19UCSC Ensembl
chr16:6683282..6683762hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38481
hg19481
hg18481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4321026
SamplesHuRef
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1442422
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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