A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv208e201



Internal ID22759566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128663680..128664337hg38UCSC Ensembl
chr12:129148225..129148882hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2746657, esv2746659
SamplesSSM100, SSM036, SSM045, SSM046, SSM074, SSM023, SSM062, SSM031, SSM086, SSM068, SSM040, SSM020, SSM080, SSM022, SSM034, SSM056
Known GenesTMEM132C
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)dgv208e201
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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