A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566173



Internal ID18767249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81389859..81390729hg38UCSC Ensembl
Outerchr5:81389744..81390812hg38UCSC Ensembl
Innerchr5:80685678..80686548hg19UCSC Ensembl
Outerchr5:80685563..80686631hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381069
hg191069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764920
Samples
Known GenesACOT12, RNU5D-1, RNU5E-1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566173
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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