A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893432



Internal ID18837566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18834973..18994584hg38UCSC Ensembl
Outerchr22:18750783..19029150hg38UCSC Ensembl
Innerchr22:18822486..18982097hg19UCSC Ensembl
Outerchr22:18738296..19016663hg19UCSC Ensembl
Innerchr22:17202486..17362097hg18UCSC Ensembl
Outerchr22:17118296..17396663hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38278368
hg19278368
hg18278368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789427, essv25789516, essv25789180, essv25792636, essv25788904, essv25791538, essv25788798
Samples
Known GenesDGCR10, DGCR5, DGCR6, DGCR9, GGT3P, PRODH
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893432
Frequency
Sample Size3017
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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