A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736395



Internal ID13093096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113600748..113614620hg38UCSC Ensembl
Outerchr5:113600548..113614820hg38UCSC Ensembl
Innerchr5:112936445..112950317hg19UCSC Ensembl
Outerchr5:112936245..112950517hg19UCSC Ensembl
Innerchr5:112964344..112978216hg18UCSC Ensembl
Outerchr5:112964144..112978416hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3814273
hg1914273
hg1814273
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302864
Supporting Variants
SamplesNA10847
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736395
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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