A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381279



Internal ID15228251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79427372..79427378hg38UCSC Ensembl
Innerchr5:79427374..79427376hg38UCSC Ensembl
Outerchr5:79427370..79427380hg38UCSC Ensembl
chr5:78723195..78723201hg19UCSC Ensembl
Innerchr5:78723197..78723199hg19UCSC Ensembl
Outerchr5:78723193..78723203hg19UCSC Ensembl
chr5:78758951..78758957hg18UCSC Ensembl
Innerchr5:78758953..78758955hg18UCSC Ensembl
Outerchr5:78758949..78758959hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864479
SamplesNA12005
Known GenesHOMER1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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