A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv948e59



Internal ID22762168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132535593..132537091hg38UCSC Ensembl
chr12:133112179..133113677hg19UCSC Ensembl
chr12:131622252..131623750hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3433969, esv3337328
SamplesNA19239, NA19240
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv948e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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