A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789993



Internal ID19162420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32054375..32387314hg38UCSC Ensembl
Innerchr22:32450362..32783301hg19UCSC Ensembl
Innerchr22:30780362..31113301hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38332940
hg19332940
hg18332940
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893474
Supporting Variants
Samples
Known GenesAP1B1P1, C22orf42, LOC339666, RFPL2, RFPL3, RFPL3S, SLC5A1, SLC5A4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=123
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789993
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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