A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv111n145



Internal ID22813127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214400373..214404329hg38UCSC Ensembl
chr1:214573716..214577672hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383957
hg193957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3110756, nsv3115837, nsv3110124, nsv3111791, nsv3110715
Samplessample294, sample60, sample78, sample101, sample407, sample286
Known GenesPTPN14
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv111n145
Frequency
Sample Size467
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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