A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694805



Internal ID15047861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55354867..55357265hg38UCSC Ensembl
Innerchr5:55355867..55356265hg38UCSC Ensembl
Outerchr5:55353867..55358265hg38UCSC Ensembl
chr5:54650695..54653093hg19UCSC Ensembl
Innerchr5:54651695..54652093hg19UCSC Ensembl
Outerchr5:54649695..54654093hg19UCSC Ensembl
chr5:54686452..54688850hg18UCSC Ensembl
Innerchr5:54687452..54687850hg18UCSC Ensembl
Outerchr5:54685452..54689850hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3413923
Supporting Variants
SamplesNA19239
Known GenesSKIV2L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694805
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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