A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694736



Internal ID15085566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2668838..2669836hg38UCSC Ensembl
Innerchr5:2668837..2669837hg38UCSC Ensembl
Outerchr5:2667838..2670836hg38UCSC Ensembl
chr5:2668952..2669950hg19UCSC Ensembl
Innerchr5:2668951..2669951hg19UCSC Ensembl
Outerchr5:2667952..2670950hg19UCSC Ensembl
chr5:2721952..2722950hg18UCSC Ensembl
Innerchr5:2722951..2721951hg18UCSC Ensembl
Outerchr5:2720952..2723950hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3376306
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694736
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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