A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996619



Internal ID7080703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48479996..48484596hg38UCSC Ensembl
Outerchr3:48521405..48525968hg19UCSC Ensembl
Outerchr3:48496409..48500972hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383858
hg193858
hg183858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565090
SamplesHuRef
Known GenesSHISA5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996619
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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