A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3251444



Internal ID11271110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181392123..181392123hg38UCSC Ensembl
chr3:181109911..181109911hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7521011
SamplesHuRef
Known GenesSOX2-OT
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3251444
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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