A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336278



Internal ID15183266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3727738..3728236hg38UCSC Ensembl
Innerchr5:3727737..3728237hg38UCSC Ensembl
Outerchr5:3726738..3729236hg38UCSC Ensembl
chr5:3727852..3728350hg19UCSC Ensembl
Innerchr5:3727851..3728351hg19UCSC Ensembl
Outerchr5:3726852..3729350hg19UCSC Ensembl
chr5:3780852..3781350hg18UCSC Ensembl
Innerchr5:3781351..3780851hg18UCSC Ensembl
Outerchr5:3779852..3782350hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3208e59
Supporting Variantsessv8694762
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336278
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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