A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556869



Internal ID18757945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14908355..14929341hg38UCSC Ensembl
Outerchr20:14907550..14929490hg38UCSC Ensembl
Innerchr20:14889001..14909987hg19UCSC Ensembl
Outerchr20:14888196..14910136hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3821941
hg1921941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755616
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556869
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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