A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564843



Internal ID7035943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:172130757..172132696hg38UCSC Ensembl
Outerchr3:171848547..171850486hg19UCSC Ensembl
Outerchr3:173331241..173333180hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg384326
hg194326
hg184326
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000089
Supporting Variants
SamplesHuRef
Known GenesFNDC3B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564843
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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