A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3924398



Internal ID11490788
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1363737
Supporting Variants
SamplesHuRef
Known GenesCEP128
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3924398
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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