A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11959116



Internal ID6176840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83989221..83994766hg38UCSC Ensembl
Innerchr5:83989273..83994714hg38UCSC Ensembl
Outerchr5:83989169..83994818hg38UCSC Ensembl
chr5:83285040..83290585hg19UCSC Ensembl
Innerchr5:83285092..83290533hg19UCSC Ensembl
Outerchr5:83284988..83290637hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg385546
hg195546
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605642
Supporting Variants
SamplesNA19713
Known GenesEDIL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11959116
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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