A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993393



Internal ID7078726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29884441..29885100hg38UCSC Ensembl
Outerchr13:30458578..30459237hg19UCSC Ensembl
Outerchr13:29356578..29357237hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383240
hg193240
hg183240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565657
SamplesHuRef
Known GenesLINC00297
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993393
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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