A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566064



Internal ID18767140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69428221..69428658hg38UCSC Ensembl
Outerchr5:69428177..69428750hg38UCSC Ensembl
Innerchr5:68724048..68724485hg19UCSC Ensembl
Outerchr5:68724004..68724577hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv359e215
Supporting Variantsessv9764811
Samples
Known GenesMARVELD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566064
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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