A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv205e201



Internal ID11594049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125409636..125409921hg38UCSC Ensembl
chr12:125894182..125894467hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2746576, esv2746573
SamplesSSM027, SSM020, SSM097, SSM008
Known GenesTMEM132B
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)dgv205e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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