A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416828



Internal ID15263786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8208139..8209237hg38UCSC Ensembl
Innerchr5:8208237..8209139hg38UCSC Ensembl
Outerchr5:8207139..8210237hg38UCSC Ensembl
chr5:8208252..8209350hg19UCSC Ensembl
Innerchr5:8208350..8209252hg19UCSC Ensembl
Outerchr5:8207252..8210350hg19UCSC Ensembl
chr5:8261252..8262350hg18UCSC Ensembl
Innerchr5:8262252..8261350hg18UCSC Ensembl
Outerchr5:8260252..8263350hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3221e59
Supporting Variantsessv8694969
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416828
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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