A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375754



Internal ID15222729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78358357..78358381hg38UCSC Ensembl
Innerchr5:78358351..78358385hg38UCSC Ensembl
Outerchr5:78358327..78358409hg38UCSC Ensembl
chr5:77654181..77654205hg19UCSC Ensembl
Innerchr5:77654175..77654209hg19UCSC Ensembl
Outerchr5:77654151..77654233hg19UCSC Ensembl
chr5:77689937..77689961hg18UCSC Ensembl
Innerchr5:77689965..77689931hg18UCSC Ensembl
Outerchr5:77689907..77689989hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38281
hg19281
hg18281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676016, essv8676017
SamplesNA19239, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375754
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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