A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563378



Internal ID18417768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8393324..8393462hg38UCSC Ensembl
Outerchr4:8393302..8393477hg38UCSC Ensembl
Innerchr4:8395051..8395189hg19UCSC Ensembl
Outerchr4:8395029..8395204hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762125
Samples
Known GenesACOX3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563378
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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