A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741178



Internal ID13642147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55410498..55410561hg38UCSC Ensembl
Innerchr5:55410511..55410548hg38UCSC Ensembl
Outerchr5:55410448..55410611hg38UCSC Ensembl
chr5:54706326..54706389hg19UCSC Ensembl
Innerchr5:54706339..54706376hg19UCSC Ensembl
Outerchr5:54706276..54706439hg19UCSC Ensembl
chr5:54742083..54742146hg18UCSC Ensembl
Innerchr5:54742133..54742096hg18UCSC Ensembl
Outerchr5:54742033..54742196hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447783
Supporting Variants
SamplesNA12878
Known GenesSKIV2L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741178
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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