A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547744



Internal ID18748820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227294593..227294878hg38UCSC Ensembl
Outerchr1:227294513..227294937hg38UCSC Ensembl
Innerchr1:227482294..227482579hg19UCSC Ensembl
Outerchr1:227482214..227482638hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746491
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547744
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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