A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718325



Internal ID9952616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21119097..21656664hg38UCSC Ensembl
Outerchr19:21301900..21839466hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38537568
hg19537567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773119, essv6839646, essv6832279, essv6971923, essv6668718, essv6917110, essv6925346, essv6846716, essv6716898, essv6960983, essv6928778, essv6843519, essv6716909, essv6716920, essv6797104, essv6764005, essv6745987, essv6685911, essv6666428, essv6901374, essv6814221, essv6967470, essv6871476, essv6858753, essv6967469, essv6699391, essv6941417, essv6885761, essv6666600, essv6824641, essv6883057, essv6921328, essv6761655, essv6725489, essv6721670, essv6941416, essv6807132, essv6950173, essv6967471, essv6914597, essv6909770, essv6784639, essv6756322, essv6729313, essv6716887, essv6863588, essv6835861, essv6816315, essv6666432, essv6874430, essv6954346, essv6750377, essv6909768, essv6797106, essv6666588, essv6846714, essv6814232, essv6741882, essv6914584, essv6713936, essv6741883, essv6710333, essv6807134, essv6780486, essv6780489, essv6909769, essv6950172, essv6841553, essv6678857, essv6898362, essv6810128, essv6954343, essv6766341, essv6758867, essv6954344, essv6839645, essv6937313, essv6707014, essv6766343, essv6761654, essv6780485, essv6753288, essv6874198, essv6843520, essv6868395, essv6971924, essv6801303, essv6846713, essv6666431, essv6682537, essv6921332, essv6921331, essv6666429, essv6843522, essv6804205, essv6750374, essv6868393, essv6744714, essv6846715, essv6820872, essv6858752, essv6828712, essv6841542, essv6820870, essv6937312, essv6913664, essv6909771, essv6820871, essv6769254, essv6753289, essv6846717, essv6888775, essv6928779, essv6750373, essv6898361, essv6738611, essv6699392, essv6960982, essv6921330, essv6756323, essv6954345, essv6741884, essv6666430, essv6753290, essv6733162, essv6816316, essv6807133, essv6773121, essv6745976, essv6928780, essv6905824, essv6707013, essv6914573, essv6863589, essv6868394, essv6902226, essv6797105, essv6713935, essv6877436, essv6895559, essv6841564, essv6816314, essv6947573, essv6905823, essv6682536, essv6717826, essv6699393, essv6668719, essv6692439, essv6913665, essv6693954, essv6692438
SamplesSSM100, SSM059, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM067, SSM044, SSM014, SSM033, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM077, SSM022, SSM010, SSM091, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM063, SSM012
Known GenesLINC00664, ZNF429, ZNF431, ZNF493, ZNF708, ZNF714, ZNF738
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)esv2718325
Frequency
Sample Size96
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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