A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv175e201



Internal ID20125062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11246888..11393743hg38UCSC Ensembl
chr12:11399794..11546677hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38146856
hg19146884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745558, esv2745556
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM058, SSM028, SSM084, SSM090, SSM047, SSM018, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM098, SSM012
Known GenesPRB1, PRB2, PRB3, PRB4
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)dgv175e201
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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