A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837294



Internal ID15081495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115180693..115180694hg38UCSC Ensembl
Innerchr5:115180502..115180885hg38UCSC Ensembl
Outerchr5:115180501..115180886hg38UCSC Ensembl
chr5:114516390..114516391hg19UCSC Ensembl
Innerchr5:114516199..114516582hg19UCSC Ensembl
Outerchr5:114516198..114516583hg19UCSC Ensembl
chr5:114544289..114544290hg18UCSC Ensembl
Innerchr5:114544481..114544098hg18UCSC Ensembl
Outerchr5:114544097..114544482hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308382
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837294
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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