A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv173e201



Internal ID20125060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11091423..11133563hg38UCSC Ensembl
chr12:11244022..11286162hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3842141
hg1942141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745551, esv2741105
SamplesSSM083, SSM071, SSM024, SSM075, SSM087, SSM039, SSM073, SSM042, SSM058, SSM028, SSM092, SSM047, SSM018, SSM029, SSM026, SSM035, SSM044, SSM086, SSM033, SSM040, SSM072, SSM005, SSM077, SSM076, SSM091, SSM070, SSM095, SSM099, SSM098
Known GenesPRH1-PRR4, TAS2R30, TAS2R43
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv173e201
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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