A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008110



Internal ID6720220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117557473..117563662hg38UCSC Ensembl
Outerchr11:117428188..117434377hg19UCSC Ensembl
Outerchr11:116933398..116939587hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386190
hg196190
hg186190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564132
SamplesHuRef
Known GenesDSCAML1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008110
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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