A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778307



Internal ID18832847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25513844hg38UCSC Ensembl
Innerchr22:25661725..25909811hg19UCSC Ensembl
Innerchr22:23991725..24239811hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248087
hg19248087
hg18248087
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 HumanHap 610
CommentsNumber of probes=66
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778307
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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