A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694738



Internal ID15047127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2669038..2669736hg38UCSC Ensembl
Innerchr5:2669037..2669737hg38UCSC Ensembl
Outerchr5:2668038..2670736hg38UCSC Ensembl
chr5:2669152..2669850hg19UCSC Ensembl
Innerchr5:2669151..2669851hg19UCSC Ensembl
Outerchr5:2668152..2670850hg19UCSC Ensembl
chr5:2722152..2722850hg18UCSC Ensembl
Innerchr5:2722851..2722151hg18UCSC Ensembl
Outerchr5:2721152..2723850hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327727
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694738
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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