A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001231



Internal ID7066359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:8050228..8050991hg38UCSC Ensembl
Outerchr11:8071775..8072538hg19UCSC Ensembl
Outerchr11:8028351..8029114hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg387708
hg197708
hg187708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565086
SamplesHuRef
Known GenesTUB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001231
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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