A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796377



Internal ID18832119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25508290hg38UCSC Ensembl
Innerchr22:25664408..25904257hg19UCSC Ensembl
Innerchr22:23994408..24234257hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38239850
hg19239850
hg18239850
Variant TypeCNV loss
Copy Number1
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=39
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796377
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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