A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009559



Internal ID7073966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35014614..35015670hg38UCSC Ensembl
Outerchr14:35483820..35484876hg19UCSC Ensembl
Outerchr14:34553571..34554627hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg386784
hg196784
hg186784
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565734
SamplesHuRef
Known GenesSRP54
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009559
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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