A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545578



Internal ID18399968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206641513..206642314hg38UCSC Ensembl
Outerchr1:206641330..206642459hg38UCSC Ensembl
Innerchr1:206814858..206815659hg19UCSC Ensembl
Outerchr1:206814675..206815804hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381130
hg191130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744325
Samples
Known GenesDYRK3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545578
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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