A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995962



Internal ID7080272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100058143..100062441hg38UCSC Ensembl
Outerchr13:100710397..100714695hg19UCSC Ensembl
Outerchr13:99508398..99512696hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg382877
hg192877
hg182877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564130
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995962
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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