A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1293360



Internal ID12456482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15615498..15615498hg38UCSC Ensembl
chr4:15617121..15617121hg19UCSC Ensembl
chr4:15226219..15226219hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38238
hg19238
hg18238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3970788
SamplesHuRef
Known GenesFBXL5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1293360
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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