A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv188e201



Internal ID22759546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53029975..53030296hg38UCSC Ensembl
chr12:53423759..53424080hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745903, esv2745901
SamplesSSM059, SSM036, SSM071, SSM027, SSM024, SSM045, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM019, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM077, SSM076, SSM022, SSM010, SSM055, SSM095, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM063, SSM012
Known GenesEIF4B
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)dgv188e201
Frequency
Sample Size96
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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