A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308864



Internal ID15155813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83020428..83020429hg38UCSC Ensembl
Innerchr5:83020410..83020447hg38UCSC Ensembl
Outerchr5:83020409..83020448hg38UCSC Ensembl
chr5:82316247..82316248hg19UCSC Ensembl
Innerchr5:82316229..82316266hg19UCSC Ensembl
Outerchr5:82316228..82316267hg19UCSC Ensembl
chr5:82352003..82352004hg18UCSC Ensembl
Innerchr5:82352022..82351985hg18UCSC Ensembl
Outerchr5:82351984..82352023hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841702, essv7843027
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308864
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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