A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000350



Internal ID6712496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:201040315..201044059hg38UCSC Ensembl
Outerchr1:201009443..201013187hg19UCSC Ensembl
Outerchr1:199276066..199279810hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383745
hg193745
hg183745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565362
SamplesHuRef
Known GenesCACNA1S
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000350
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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