A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007536



Internal ID6719649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:214625375..214630086hg38UCSC Ensembl
Outerchr1:214798718..214803429hg19UCSC Ensembl
Outerchr1:212865341..212870052hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382328
hg192328
hg182328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564331
SamplesHuRef
Known GenesCENPF
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007536
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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