A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788316



Internal ID18832145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25273602..25508290hg38UCSC Ensembl
Innerchr22:25669569..25904257hg19UCSC Ensembl
Innerchr22:23999569..24234257hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38234689
hg19234689
hg18234689
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893465
Supporting Variants
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=38
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788316
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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