A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893313



Internal ID18837447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14874289..14886776hg38UCSC Ensembl
Outerchr20:14874289..14886776hg38UCSC Ensembl
Innerchr20:14854935..14867422hg19UCSC Ensembl
Outerchr20:14854935..14867422hg19UCSC Ensembl
Innerchr20:14802935..14815422hg18UCSC Ensembl
Outerchr20:14802935..14815422hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3812488
hg1912488
hg1812488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25778718
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893313
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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