A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718352



Internal ID9952643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21958487..22979047hg38UCSC Ensembl
Outerchr19:22141289..23161849hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381020561
hg191020561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv512e201
Supporting Variantsessv6928782, essv6946117, essv6699395, essv6858759, essv6820882, essv6761657, essv6682541, essv6858761, essv6874287, essv6725496, essv6913666, essv6909780, essv6883058, essv6905825, essv6925347, essv6824651, essv6792916, essv6880217, essv6741891, essv6804209, essv6685915, essv6692441, essv6689054, essv6797113, essv6892092, essv6750379, essv6769258, essv6804208, essv6843527, essv6773128, essv6725497, essv6713938, essv6792918, essv6832281, essv6666699, essv6868401, essv6753293, essv6898366, essv6725494, essv6901379, essv6788814, essv6717831, essv6950181, essv6871479, essv6689053, essv6868399, essv6674779, essv6937317, essv6788808, essv6858764, essv6841598, essv6733165, essv6764007, essv6967481, essv6792915, essv6902227, essv6741888, essv6967476, essv6820878, essv6914630, essv6828715, essv6699396, essv6909775, essv6960991, essv6668721, essv6960993, essv6820879, essv6932945, essv6874432, essv6674783, essv6898365, essv6824650, essv6960988, essv6678861, essv6781321, essv6784645, essv6843524, essv6883061, essv6835864, essv6753295, essv6868397, essv6666633, essv6753292, essv6885763, essv6773123, essv6797108, essv6750381, essv6810133, essv6820881, essv6960992, essv6928781, essv6858758, essv6832280, essv6781376, essv6685916, essv6901382, essv6960994, essv6901378, essv6874220, essv6846719, essv6913672, essv6901381, essv6721673, essv6841631, essv6858757, essv6921333, essv6874253, essv6946119, essv6871478, essv6788813, essv6750380, essv6744718, essv6877437, essv6820875, essv6812942, essv6707016, essv6692445, essv6863594, essv6788809, essv6967475, essv6678863, essv6693976, essv6967480, essv6946116, essv6744716, essv6921335, essv6801309, essv6773125, essv6721674, essv6820876, essv6792912, essv6725498, essv6682545, essv6666440, essv6710335, essv6824649, essv6801306, essv6769261, essv6678865, essv6888778, essv6888782, essv6816318, essv6682542, essv6773126, essv6909776, essv6902232, essv6863599, essv6954348, essv6839648, essv6788807, essv6713944, essv6729319, essv6716932, essv6921339, essv6858760, essv6666622, essv6841586, essv6729318, essv6971925, essv6674780, essv6921334, essv6674785, essv6816317, essv6678867, essv6769257, essv6954353, essv6937320, essv6843528, essv6812944, essv6797110, essv6741885, essv6753296, essv6781343, essv6713945, essv6729315, essv6820880, essv6841609, essv6812948, essv6713939, essv6703536, essv6693987, essv6733164, essv6738613, essv6685914, essv6874242, essv6828718, essv6781487, essv6797114, essv6885767, essv6917113, essv6666435, essv6937316, essv6733167, essv6835867, essv6892091, essv6917114, essv6707021, essv6804207, essv6756325, essv6674782, essv6758869, essv6780492, essv6868400, essv6797116, essv6781410, essv6895560, essv6666436, essv6846724, essv6841664, essv6874433, essv6824646, essv6703535, essv6835863, essv6812945, essv6764006, essv6824647, essv6960989, essv6745998, essv6828716, essv6729321, essv6917111, essv6832284, essv6810131, essv6746043, essv6971927, essv6820884, essv6674784, essv6871483, essv6913671, essv6841620, essv6807138, essv6692446, essv6947596, essv6747560, essv6781421, essv6932941, essv6839649, essv6703537, essv6792919, essv6947584, essv6917115, essv6880215, essv6766346, essv6674778, essv6913667, essv6824648, essv6937319, essv6810130, essv6947607, essv6814243, essv6874276, essv6946115, essv6776668, essv6769256, essv6746054, essv6682546, essv6678862, essv6880214, essv6781365, essv6901380, essv6846720, essv6792917, essv6863592, essv6784644, essv6682540, essv6902228, essv6725495, essv6784649, essv6914652, essv6937315, essv6932946, essv6781354, essv6863593, essv6769262, essv6694031, essv6874231, essv6960990, essv6807137, essv6967477, essv6841575, essv6960996, essv6852788, essv6678860, essv6950175, essv6828714, essv6941420, essv6909774, essv6678864, essv6744717, essv6954349, essv6773124, essv6753294, essv6917112, essv6947629
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, 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, SSM043, SSM052, SSM098, SSM056, SSM030, SSM063, SSM012
Known GenesLOC100996349, LOC440518, ZNF208, ZNF257, ZNF492, ZNF676, ZNF728, ZNF729, ZNF98, ZNF99
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)esv2718352
Frequency
Sample Size96
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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