A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564928



Internal ID7036028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70364194..70375069hg38UCSC Ensembl
Outerchr11:70210300..70221175hg19UCSC Ensembl
Outerchr11:69887948..69898823hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3811118
hg1911118
hg1811118
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989281
Supporting Variants
SamplesHuRef
Known GenesPPFIA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564928
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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