A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718351



Internal ID9952642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21952210..22181073hg38UCSC Ensembl
Outerchr19:22135012..22363875hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38228864
hg19228864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv513e201
Supporting Variantsessv6781332, essv6699395, essv6761657, essv6682541, essv6954348, essv6839648, essv6788807, essv6913666, essv6883058, essv6925347, essv6716932, essv6666622, essv6841586, essv6971925, essv6921334, essv6816317, essv6692441, essv6735811, essv6750379, essv6741885, essv6781343, essv6682539, essv6713938, essv6729315, essv6725493, essv6753293, essv6693987, essv6901379, essv6733164, essv6738613, essv6685914, essv6689053, essv6674779, essv6666435, essv6937316, essv6892091, essv6804207, essv6756325, essv6780492, essv6902227, essv6895560, essv6820878, essv6666436, essv6824646, essv6703535, essv6835863, essv6914630, essv6764006, essv6828715, essv6909775, essv6745998, essv6668721, essv6932945, essv6874432, essv6917111, essv6898365, essv6960988, essv6678861, essv6781321, essv6843524, essv6753292, essv6947596, essv6885763, essv6773123, essv6747560, essv6797108, essv6932941, essv6928781, essv6832280, essv6781376, essv6901378, essv6874220, essv6846719, essv6947584, essv6766346, essv6721673, essv6674778, essv6858757, essv6921333, essv6871478, essv6810130, essv6750380, essv6744718, essv6814243, essv6946115, essv6776668, essv6769256, essv6880214, essv6820875, essv6812942, essv6707016, essv6863592, essv6784644, essv6682540, essv6725495, essv6937315, essv6781354, essv6863593, essv6693976, essv6874231, essv6946116, essv6807137, essv6744716, essv6841575, essv6852788, essv6678860, essv6820876, essv6792912, essv6950175, essv6828714, essv6710335, essv6941420, essv6909774, essv6801306, essv6888778, essv6744717
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, 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, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesZNF208, ZNF257, ZNF676
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)esv2718351
Frequency
Sample Size96
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


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