A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998863



Internal ID7064616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:122937365..122940087hg38UCSC Ensembl
Outerchr3:122656212..122658934hg19UCSC Ensembl
Outerchr3:124138902..124141624hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg382357
hg192357
hg182357
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564952
SamplesHuRef
Known GenesSEMA5B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998863
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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