A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718302



Internal ID9952593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19963261..20771801hg38UCSC Ensembl
Outerchr19:20074070..20954607hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38808541
hg19880538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv509e201
Supporting Variantsessv6745909, essv6885759, essv6666533, essv6780821, essv6971920, essv6852781, essv6858739, essv6668717, essv6858741, essv6733159, essv6750369, essv6753284, essv6666420, essv6898356, essv6784635, essv6852780, essv6824638, essv6716832, essv6858742, essv6852779, essv6932938, essv6839643, essv6753283, essv6820862, essv6947507, essv6898357, essv6814166, essv6960977, essv6764002, essv6769251, essv6812938, essv6960979, essv6773117, essv6788803, essv6666421, essv6928776, essv6832274, essv6863583, essv6960978, essv6835858, essv6937308, essv6921324, essv6756318, essv6858744, essv6747558, essv6717823, essv6954337, essv6773116, essv6820863, essv6716843, essv6902224, essv6905820, essv6703529, essv6666419, essv6753282, essv6741878, essv6877433, essv6781266, essv6905817, essv6693920, essv6758862, essv6858746, essv6902222, essv6846711, essv6905821, essv6883055, essv6776663, essv6750368, essv6913658, essv6858740, essv6843514, essv6960980, essv6696688, essv6937309, essv6824637, essv6780932, essv6901370, essv6967463, essv6874425, essv6841487, essv6733160, essv6917106, essv6776664, essv6780482, essv6745920, essv6682531, essv6814155, essv6693909, essv6967464, essv6816310, essv6682533
SamplesSSM100, SSM059, SSM008, SSM083, SSM027, SSM064, SSM079, SSM065, SSM087, SSM039, SSM013, SSM009, SSM088, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM069, SSM029, SSM062, SSM026, SSM017, SSM019, SSM094, SSM003, SSM067, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM056, SSM030, SSM012
Known GenesMIR1270-1, MIR1270-2, ZNF486, ZNF626, ZNF682, ZNF737, ZNF826P, ZNF90
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)esv2718302
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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