A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3280050



Internal ID10953030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145011100..145017100hg38UCSC Ensembl
Innerchr1:143992000..143998000hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7549617
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3280050
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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