A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566166



Internal ID18767242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80743577..80743834hg38UCSC Ensembl
Outerchr5:80743532..80743894hg38UCSC Ensembl
Innerchr5:80039396..80039653hg19UCSC Ensembl
Outerchr5:80039351..80039713hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764913
Samples
Known GenesMSH3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566166
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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