A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304358



Internal ID15151306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78358325..78358326hg38UCSC Ensembl
Innerchr5:78358303..78358348hg38UCSC Ensembl
Outerchr5:78358302..78358349hg38UCSC Ensembl
chr5:77654149..77654150hg19UCSC Ensembl
Innerchr5:77654127..77654172hg19UCSC Ensembl
Outerchr5:77654126..77654173hg19UCSC Ensembl
chr5:77689905..77689906hg18UCSC Ensembl
Innerchr5:77689928..77689883hg18UCSC Ensembl
Outerchr5:77689882..77689929hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38315
hg19315
hg18315
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7767038, essv7769303, essv7769618, essv7764699, essv7768478
SamplesNA19141, NA19239, NA12872, NA12234, NA12892
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304358
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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