A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564246



Internal ID6688942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47431271..47431922hg38UCSC Ensembl
Outerchr3:47472761..47473412hg19UCSC Ensembl
Outerchr3:47447765..47448416hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382792
hg192792
hg182792
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998559
Supporting Variants
SamplesHuRef
Known GenesSCAP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564246
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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