A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799031



Internal ID18821374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14573099..14640308hg38UCSC Ensembl
Innerchr20:14553745..14620954hg19UCSC Ensembl
Innerchr20:14501745..14568954hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3867210
hg1967210
hg1867210
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893293
Supporting Variants
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799031
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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