A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351164



Internal ID15198145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33984790..33985988hg38UCSC Ensembl
Innerchr5:33984988..33985790hg38UCSC Ensembl
Outerchr5:33983790..33986988hg38UCSC Ensembl
chr5:33984895..33986093hg19UCSC Ensembl
Innerchr5:33985093..33985895hg19UCSC Ensembl
Outerchr5:33983895..33987093hg19UCSC Ensembl
chr5:34020652..34021850hg18UCSC Ensembl
Innerchr5:34021652..34020850hg18UCSC Ensembl
Outerchr5:34019652..34022850hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694751
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351164
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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