A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563250



Internal ID18417640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1742789..1742928hg38UCSC Ensembl
Outerchr4:1742760..1742955hg38UCSC Ensembl
Innerchr4:1744516..1744655hg19UCSC Ensembl
Outerchr4:1744487..1744682hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761997
Samples
Known GenesTACC3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563250
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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