A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792850



Internal ID18835271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25290073..25577697hg38UCSC Ensembl
Innerchr22:25686040..25973664hg19UCSC Ensembl
Innerchr22:24016040..24303664hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38287625
hg19287625
hg18287625
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893465
Supporting Variants
Samples
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=81
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792850
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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