A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566273



Internal ID18767349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:92184973..92185305hg38UCSC Ensembl
Outerchr5:92184903..92185355hg38UCSC Ensembl
Innerchr5:91480790..91481122hg19UCSC Ensembl
Outerchr5:91480720..91481172hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38453
hg19453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765020
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566273
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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