A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893347



Internal ID18837481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54037873hg38UCSC Ensembl
Outerchr20:54031284..54038172hg38UCSC Ensembl
Innerchr20:52647823..52654412hg19UCSC Ensembl
Outerchr20:52647823..52654711hg19UCSC Ensembl
Innerchr20:52081230..52087819hg18UCSC Ensembl
Outerchr20:52081230..52088118hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780695, essv25787741, essv25779367, essv25786464, essv25787243, essv25786709
Samples
Known GenesBCAS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893347
Frequency
Sample Size3017
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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