A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566179



Internal ID18767255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82270256..82273322hg38UCSC Ensembl
Outerchr5:82270182..82273781hg38UCSC Ensembl
Innerchr5:81566075..81569141hg19UCSC Ensembl
Outerchr5:81566001..81569600hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764926
Samples
Known GenesRPS23
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566179
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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