A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991446



Internal ID7077349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25812473..25814550hg38UCSC Ensembl
Outerchr13:26386611..26388688hg19UCSC Ensembl
Outerchr13:25284611..25286688hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383391
hg193391
hg183391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565182
SamplesHuRef
Known GenesATP8A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991446
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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