A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694680



Internal ID15046679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179965746..179967144hg38UCSC Ensembl
Innerchr5:179966144..179966746hg38UCSC Ensembl
Outerchr5:179964746..179968144hg38UCSC Ensembl
chr5:179392746..179394144hg19UCSC Ensembl
Innerchr5:179393144..179393746hg19UCSC Ensembl
Outerchr5:179391746..179395144hg19UCSC Ensembl
chr5:179325352..179326750hg18UCSC Ensembl
Innerchr5:179326352..179325750hg18UCSC Ensembl
Outerchr5:179324352..179327750hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3412320
Supporting Variants
SamplesNA19239
Known GenesRNF130
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694680
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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