A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411347



Internal ID15258307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174521743..174522441hg38UCSC Ensembl
Innerchr5:174521742..174522442hg38UCSC Ensembl
Outerchr5:174520743..174523441hg38UCSC Ensembl
chr5:173948746..173949444hg19UCSC Ensembl
Innerchr5:173948745..173949445hg19UCSC Ensembl
Outerchr5:173947746..173950444hg19UCSC Ensembl
chr5:173881352..173882050hg18UCSC Ensembl
Innerchr5:173882051..173881351hg18UCSC Ensembl
Outerchr5:173880352..173883050hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694650
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411347
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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