A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790300



Internal ID18831725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25514700hg38UCSC Ensembl
Innerchr22:25664408..25910667hg19UCSC Ensembl
Innerchr22:23994408..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38246260
hg19246260
hg18246260
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 HumanHap 610
CommentsNumber of probes=66
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790300
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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