A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764613



Internal ID18738859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:43479155..43482153hg38UCSC Ensembl
Outerchr5:43478887..43482376hg38UCSC Ensembl
Innerchr5:43479257..43482255hg19UCSC Ensembl
Outerchr5:43478989..43482478hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383490
hg193490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3565866
Supporting Variants
Samples
Known GenesC5orf28
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764613
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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