A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718297



Internal ID9952588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19837419..20771801hg38UCSC Ensembl
Outerchr19:19948228..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 Variantsdgv509e201
Supporting Variantsessv6843515, essv6745909, essv6729310, essv6885759, essv6666533, essv6780821, essv6971920, essv6858739, essv6668717, essv6858741, essv6733159, essv6750369, essv6735805, essv6693887, essv6666420, essv6784635, essv6666418, essv6852780, essv6716832, essv6858742, essv6852779, essv6716809, essv6932938, essv6839643, essv6753283, essv6914529, essv6858737, essv6947507, essv6814166, essv6960977, essv6764002, essv6868389, essv6769251, essv6812938, essv6812936, essv6960979, essv6788803, essv6928776, essv6832274, essv6753281, essv6756316, essv6880210, essv6863583, essv6960978, essv6835858, essv6937308, essv6921324, essv6781243, essv6756318, essv6858744, essv6747558, essv6954337, essv6773116, essv6820863, essv6716843, essv6902224, essv6905820, essv6703529, essv6804203, essv6666419, essv6753282, essv6741878, essv6877433, essv6781266, essv6905817, essv6756317, essv6758862, essv6812937, essv6902223, essv6858746, essv6902222, essv6905821, essv6716821, essv6883055, essv6776663, essv6773115, essv6750368, essv6913658, essv6858740, essv6843514, essv6863582, essv6696688, essv6937309, essv6780932, essv6901370, essv6967463, essv6874425, essv6841487, essv6917106, essv6764001, essv6780482, essv6738606, essv6682531, essv6814155, essv6693909, essv6967464
SamplesSSM100, SSM059, SSM008, SSM083, SSM027, SSM046, SSM064, SSM065, SSM087, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM088, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM003, SSM067, SSM001, SSM086, SSM033, SSM066, SSM006, SSM068, SSM081, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM037, SSM076, SSM010, SSM091, SSM055, SSM095, SSM025, SSM004, SSM052, SSM049, SSM056, SSM030, SSM012
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)esv2718297
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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