A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv728n145



Internal ID22813744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31487845..31491489hg38UCSC Ensembl
chr22:31883831..31887475hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383645
hg193645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3110580, nsv3113467, nsv3117588, nsv3115192
Samplessample149, sample289, sample224, sample33
Known GenesEIF4ENIF1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv728n145
Frequency
Sample Size467
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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