A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990130



Internal ID6726098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:14275533..14278819hg38UCSC Ensembl
Outerchr11:14297079..14300365hg19UCSC Ensembl
Outerchr11:14253655..14256941hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg382923
hg192923
hg182923
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564716
SamplesHuRef
Known GenesRRAS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990130
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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