A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893478



Internal ID18837612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35902393..35941728hg38UCSC Ensembl
Outerchr22:35902393..35959310hg38UCSC Ensembl
Innerchr22:36298441..36337776hg19UCSC Ensembl
Outerchr22:36298441..36355358hg19UCSC Ensembl
Innerchr22:34628387..34667722hg18UCSC Ensembl
Outerchr22:34628387..34685304hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3856918
hg1956918
hg1856918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785049, essv25781118, essv25780456, essv25780595
Samples
Known GenesRBFOX2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893478
Frequency
Sample Size3017
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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