A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788311



Internal ID19175259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21071480..21109441hg38UCSC Ensembl
Innerchr22:21425769..21463730hg19UCSC Ensembl
Innerchr22:19755769..19793730hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3837962
hg1937962
hg1837962
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893442
Supporting Variants
Samples
Known GenesBCRP2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788311
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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