A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1218411



Internal ID12381534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55331843..55331843hg38UCSC Ensembl
chr14:55798561..55798561hg19UCSC Ensembl
chr14:54868314..54868314hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3718897
SamplesHuRef
Known GenesFBXO34
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1218411
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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