A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8074n54



Internal ID19000250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25244661..25598046hg38UCSC Ensembl
chr22:25640628..25994013hg19UCSC Ensembl
chr22:23970628..24324013hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38353386
hg19353386
hg18353386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588787, nsv588805, nsv588769
SamplesHGDP01257, HGDP01255, HGDP00698
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8074n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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