A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv267e201



Internal ID20125154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70424475..70425011hg38UCSC Ensembl
chr14:70891192..70891728hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2748839, esv2748840, esv2748842
SamplesSSM100, SSM059, SSM036, SSM008, SSM027, SSM024, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM074, SSM042, SSM088, SSM041, SSM023, SSM058, SSM084, SSM090, SSM069, SSM061, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM005, SSM077, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM098, SSM063
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)dgv267e201
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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