A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563400



Internal ID18417790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9950694..9950914hg38UCSC Ensembl
Outerchr4:9950629..9950968hg38UCSC Ensembl
Innerchr4:9952318..9952538hg19UCSC Ensembl
Outerchr4:9952253..9952592hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv312e215
Supporting Variantsessv9762147
Samples
Known GenesSLC2A9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563400
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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