A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv509e201



Internal ID18984148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19837419..20771801hg38UCSC Ensembl
chr19:19948228..20954607hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38934383
hg191006380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718302, esv2718297
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM082, SSM086, SSM006, SSM055, SSM091, SSM033, SSM084, SSM099, SSM078, SSM043, SSM088, SSM089, SSM064, SSM025, SSM020, SSM016, SSM057, SSM001, SSM039, SSM067, SSM094, SSM083, SSM050, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM087, SSM046, SSM019, SSM079, SSM052, SSM068, SSM004, SSM015, SSM026, SSM049, SSM008, SSM076, SSM058, SSM059, SSM081
Known GenesMIR1270-1, MIR1270-2, ZNF253, ZNF486, ZNF626, ZNF682, ZNF737, ZNF826P, ZNF90, ZNF93
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)dgv509e201
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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