A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344540



Internal ID15191524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113556936..113557534hg38UCSC Ensembl
Innerchr13:113556935..113557535hg38UCSC Ensembl
Outerchr13:113555936..113558534hg38UCSC Ensembl
chr13:114211251..114211849hg19UCSC Ensembl
Innerchr13:114211250..114211850hg19UCSC Ensembl
Outerchr13:114210251..114212849hg19UCSC Ensembl
chr13:113259252..113259850hg18UCSC Ensembl
Innerchr13:113259851..113259251hg18UCSC Ensembl
Outerchr13:113258252..113260850hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688834
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344540
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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