A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv212e201



Internal ID22759570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130781573..130782684hg38UCSC Ensembl
chr12:131266118..131267229hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381112
hg191112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2746793, esv2746791
SamplesSSM100, SSM083, SSM071, SSM027, SSM045, SSM079, SSM065, SSM039, SSM088, SSM041, SSM028, SSM021, SSM096, SSM026, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM081, SSM040, SSM072, SSM020, SSM007, SSM053, SSM077, SSM025, SSM043, SSM098
Known Genes
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)dgv212e201
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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