A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1478247



Internal ID12294683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77395405..77395405hg38UCSC Ensembl
chr5:76691230..76691230hg19UCSC Ensembl
chr5:76726986..76726986hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38314
hg19314
hg18314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4209940
SamplesHuRef
Known GenesPDE8B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1478247
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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