A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564807



Internal ID7035907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47370321..47371326hg38UCSC Ensembl
Outerchr11:47391872..47392877hg19UCSC Ensembl
Outerchr11:47348448..47349453hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382604
hg192604
hg182604
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992404
Supporting Variants
SamplesHuRef
Known GenesSPI1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564807
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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