A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv261n145



Internal ID22813277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69238548..69241561hg38UCSC Ensembl
chr12:69632328..69635341hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383014
hg193014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3113184, nsv3114715, nsv3111198, nsv3110864, nsv3115134, nsv3118288
Samplessample98, sample93, sample224, sample361, sample208, sample59
Known GenesCPSF6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv261n145
Frequency
Sample Size467
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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