A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305465



Internal ID15152413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95861821..95861822hg38UCSC Ensembl
Innerchr13:95861774..95861869hg38UCSC Ensembl
Outerchr13:95861773..95861870hg38UCSC Ensembl
chr13:96514075..96514076hg19UCSC Ensembl
Innerchr13:96514028..96514123hg19UCSC Ensembl
Outerchr13:96514027..96514124hg19UCSC Ensembl
chr13:95312076..95312077hg18UCSC Ensembl
Innerchr13:95312124..95312029hg18UCSC Ensembl
Outerchr13:95312028..95312125hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38132
hg19132
hg18132
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7756413, essv7754139, essv7742139
SamplesNA18519, NA18912, NA18853
Known GenesUGGT2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305465
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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