A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790493



Internal ID19171285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42915517..43036199hg38UCSC Ensembl
Innerchr22:43311523..43432205hg19UCSC Ensembl
Innerchr22:41641467..41762149hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38120683
hg19120683
hg18120683
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893487
Supporting Variants
Samples
Known GenesPACSIN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790493
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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