A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540222



Internal ID18741298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121621456..121644149hg38UCSC Ensembl
Outerchr1:121616251..121647805hg38UCSC Ensembl
Innerchr1:121363254..121385947hg19UCSC Ensembl
Outerchr1:121358049..121389603hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3831555
hg1931555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738969
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540222
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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