A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557293



Internal ID18758369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:60537160..60549373hg38UCSC Ensembl
Outerchr20:60536443..60549942hg38UCSC Ensembl
Innerchr20:59112218..59124431hg19UCSC Ensembl
Outerchr20:59111501..59125000hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3813500
hg1913500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756040
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557293
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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