A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv887n145



Internal ID22813903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68475301..68623992hg38UCSC Ensembl
chr4:69341019..69489710hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38148692
hg19148692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3117331, nsv3115179, nsv3114350, nsv3116171, nsv3117864, nsv3116675, nsv3116151
Samplessample98, sample154, sample379, sample70, sample83, sample84, sample170, sample420, sample271, sample142, sample3, sample171, sample164, sample51, sample421, sample232, sample42, sample28, sample95, sample360, sample414, sample394, sample29, sample76, sample310, sample19, sample345, sample44, sample226, sample293, sample387, sample217, sample339, sample287, sample418, sample102, sample43, sample197, sample18, sample89, sample234, sample188, sample113, sample46
Known GenesTMPRSS11E, UGT2B17
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv887n145
Frequency
Sample Size467
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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