A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993814



Internal ID6729771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:47213198..47215131hg38UCSC Ensembl
Outerchr15:47505395..47507328hg19UCSC Ensembl
Outerchr15:45292687..45294620hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg385790
hg195790
hg185790
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565266
SamplesHuRef
Known GenesSEMA6D
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993814
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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