A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564980



Internal ID18419370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:169229929..169230059hg38UCSC Ensembl
Outerchr4:169229924..169230063hg38UCSC Ensembl
Innerchr4:170151080..170151210hg19UCSC Ensembl
Outerchr4:170151075..170151214hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9763727
Samples
Known GenesSH3RF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564980
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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