A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7975n54



Internal ID20141399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18901977..19029150hg38UCSC Ensembl
chr22:18889490..19016663hg19UCSC Ensembl
chr22:17269490..17396663hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38127174
hg19127174
hg18127174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588207, nsv588205, nsv588200, nsv588192, nsv588195, nsv588194, nsv588189
SamplesHGDP01418
Known GenesDGCR10, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7975n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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