A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996248



Internal ID7063405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68887013..68891352hg38UCSC Ensembl
Outerchr11:68654481..68658820hg19UCSC Ensembl
Outerchr11:68411057..68415396hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg382858
hg192858
hg182858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565614
SamplesHuRef
Known GenesMRPL21
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996248
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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