A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002479



Internal ID7067595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:80072861..80074024hg38UCSC Ensembl
Outerchr11:79783905..79785068hg19UCSC Ensembl
Outerchr11:79461553..79462716hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg384084
hg194084
hg184084
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565375
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002479
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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