A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566290



Internal ID18420680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94774001..94774236hg38UCSC Ensembl
Outerchr5:94773918..94774267hg38UCSC Ensembl
Innerchr5:94109706..94109941hg19UCSC Ensembl
Outerchr5:94109623..94109972hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv362e215
Supporting Variantsessv9765037
Samples
Known GenesMCTP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566290
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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