A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564331



Internal ID6689027
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007536
Supporting Variants
SamplesHuRef
Known GenesCENPF
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564331
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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