A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388111



Internal ID14888394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23867025..23867055hg38UCSC Ensembl
Innerchr12:23867034..23867043hg38UCSC Ensembl
Outerchr12:23867004..23867076hg38UCSC Ensembl
chr12:24019959..24019989hg19UCSC Ensembl
Innerchr12:24019968..24019977hg19UCSC Ensembl
Outerchr12:24019938..24020010hg19UCSC Ensembl
chr12:23911226..23911256hg18UCSC Ensembl
Innerchr12:23911244..23911235hg18UCSC Ensembl
Outerchr12:23911205..23911277hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38185
hg19185
hg18185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8956240, essv8956243, essv8956241, essv8956242
SamplesNA10847, NA07357, NA12045, NA12717
Known GenesSOX5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388111
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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