A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306589



Internal ID15153537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171240087..171240088hg38UCSC Ensembl
Innerchr5:171240001..171240174hg38UCSC Ensembl
Outerchr5:171240000..171240175hg38UCSC Ensembl
chr5:170667091..170667092hg19UCSC Ensembl
Innerchr5:170667005..170667178hg19UCSC Ensembl
Outerchr5:170667004..170667179hg19UCSC Ensembl
chr5:170599696..170599697hg18UCSC Ensembl
Innerchr5:170599783..170599610hg18UCSC Ensembl
Outerchr5:170599609..170599784hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7740568, essv7760112
SamplesNA18504, NA18501
Known GenesRANBP17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306589
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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