A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417582



Internal ID15264540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2531338..2532436hg38UCSC Ensembl
Innerchr5:2531436..2532338hg38UCSC Ensembl
Outerchr5:2530338..2533436hg38UCSC Ensembl
chr5:2531452..2532550hg19UCSC Ensembl
Innerchr5:2531550..2532452hg19UCSC Ensembl
Outerchr5:2530452..2533550hg19UCSC Ensembl
chr5:2584452..2585550hg18UCSC Ensembl
Innerchr5:2585452..2584550hg18UCSC Ensembl
Outerchr5:2583452..2586550hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3205e59
Supporting Variantsessv8694729
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417582
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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