A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362900



Internal ID15209878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76336271..76340769hg38UCSC Ensembl
Innerchr5:76337271..76339769hg38UCSC Ensembl
Outerchr5:76335271..76341769hg38UCSC Ensembl
chr5:75632096..75636594hg19UCSC Ensembl
Innerchr5:75633096..75635594hg19UCSC Ensembl
Outerchr5:75631096..75637594hg19UCSC Ensembl
chr5:75667852..75672350hg18UCSC Ensembl
Innerchr5:75668852..75671350hg18UCSC Ensembl
Outerchr5:75666852..75673350hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384499
hg194499
hg184499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694953
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362900
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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