A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1363737



Internal ID12180173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80729093..80729093hg38UCSC Ensembl
chr14:81195437..81195437hg19UCSC Ensembl
chr14:80265190..80265190hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3924398
SamplesHuRef
Known GenesCEP128
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1363737
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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