A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996942



Internal ID7080912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19054063..19072756hg38UCSC Ensembl
Outerchr13:19628203..19646896hg19UCSC Ensembl
Outerchr13:18526203..18544896hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3811248
hg1911248
hg1811248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564225
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996942
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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