A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989399



Internal ID7060993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:40523233..40523755hg38UCSC Ensembl
Outerchr13:41097370..41097892hg19UCSC Ensembl
Outerchr13:39995370..39995892hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383124
hg193124
hg183124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565626
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989399
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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