A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788818



Internal ID18815393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23509514..23995877hg38UCSC Ensembl
Innerchr22:23851701..24338071hg19UCSC Ensembl
Innerchr22:22181701..22668071hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38486364
hg19486371
hg18486371
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893461
Supporting Variants
Samples
Known GenesC22orf15, C22orf43, CHCHD10, DDT, DDTL, DERL3, GSTT2, GSTT2B, GUSBP11, IGLL1, LOC284889, MIF, MMP11, RGL4, SLC2A11, SMARCB1, VPREB3, ZNF70
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=156
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788818
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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