A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377620



Internal ID14877887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99341097..99342895hg38UCSC Ensembl
Innerchr13:99341895..99342097hg38UCSC Ensembl
Outerchr13:99340097..99343895hg38UCSC Ensembl
chr13:99993351..99995149hg19UCSC Ensembl
Innerchr13:99994149..99994351hg19UCSC Ensembl
Outerchr13:99992351..99996149hg19UCSC Ensembl
chr13:98791352..98793150hg18UCSC Ensembl
Innerchr13:98792352..98792150hg18UCSC Ensembl
Outerchr13:98790352..98794150hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689013
SamplesNA19239
Known GenesMIR548AN, UBAC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377620
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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