A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv513e201



Internal ID20125400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:21952210..22181083hg38UCSC Ensembl
chr19:22135012..22363885hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38228874
hg19228874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718353, esv2718351
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesZNF208, ZNF257, ZNF676
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)dgv513e201
Frequency
Sample Size96
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


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