A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893345



Internal ID18837479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48974027..49030531hg38UCSC Ensembl
Outerchr20:48972585..49030531hg38UCSC Ensembl
Innerchr20:47590564..47647068hg19UCSC Ensembl
Outerchr20:47589122..47647068hg19UCSC Ensembl
Innerchr20:47023971..47080475hg18UCSC Ensembl
Outerchr20:47022529..47080475hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3857947
hg1957947
hg1857947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783841, essv25785959, essv25798186
Samples
Known GenesARFGEF2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893345
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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