A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566060



Internal ID18420450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69175269..69175321hg38UCSC Ensembl
Outerchr5:69175268..69175322hg38UCSC Ensembl
Innerchr5:68471096..68471148hg19UCSC Ensembl
Outerchr5:68471095..68471149hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv358e215
Supporting Variantsessv9764807
Samples
Known GenesCCNB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566060
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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