A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557119



Internal ID18411509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45720362..45750861hg38UCSC Ensembl
Outerchr20:45720144..45750978hg38UCSC Ensembl
Innerchr20:44349001..44379500hg19UCSC Ensembl
Outerchr20:44348783..44379617hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3830835
hg1930835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755866
Samples
Known GenesSPINT4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557119
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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