A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780595



Internal ID18832814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35902393..35959310hg38UCSC Ensembl
Innerchr22:36298441..36355358hg19UCSC Ensembl
Innerchr22:34628387..34685304hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3856918
hg1956918
hg1856918
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893478
Supporting Variants
Samples
Known GenesRBFOX2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=9
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780595
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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