A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565481



Internal ID7036863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45239969..45243214hg38UCSC Ensembl
Outerchr3:45281461..45284706hg19UCSC Ensembl
Outerchr3:45256465..45259710hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383055
hg193055
hg183055
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001860
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565481
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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