A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566713



Internal ID18767789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139398836..139399070hg38UCSC Ensembl
Outerchr5:139398768..139399128hg38UCSC Ensembl
Innerchr5:138734525..138734759hg19UCSC Ensembl
Outerchr5:138734457..138734817hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv369e215
Supporting Variantsessv9765460
Samples
Known GenesSPATA24
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566713
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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