A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326553



Internal ID15173535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75533115..75545713hg38UCSC Ensembl
Innerchr13:75534115..75544713hg38UCSC Ensembl
Outerchr13:75532115..75546713hg38UCSC Ensembl
chr13:76107251..76119849hg19UCSC Ensembl
Innerchr13:76108251..76118849hg19UCSC Ensembl
Outerchr13:76106251..76120849hg19UCSC Ensembl
chr13:75005252..75017850hg18UCSC Ensembl
Innerchr13:75006252..75016850hg18UCSC Ensembl
Outerchr13:75004252..75018850hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3812599
hg1912599
hg1812599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688996
SamplesNA19240
Known GenesCOMMD6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326553
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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