A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714382



Internal ID10298018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46381084..46392958hg38UCSC Ensembl
Outerchr16:46412359..46426870hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3811875
hg1914512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742342, essv6690966, essv6882715, essv6766075, essv6674063, essv6800812, essv6928376, essv6815923, essv6843005, essv6828268, essv6895155, essv6732685, essv6752940, essv6943284, essv6725026, essv6909416, essv6665546, essv6895149, essv6971409, essv6732673, essv6901811, essv6747212, essv6796603, essv6696119, essv6858052, essv6874059, essv6940933, essv6863044, essv6744391, essv6750044, essv6831817, essv6871150, essv6870808, essv6936764, essv6870797, essv6792406, essv6713478, essv6839196, essv6758576, essv6852064, essv6688702, essv6895150, essv6803890, essv6806781, essv6784162, essv6768917, essv6867838, essv6913158, essv6772624, essv6936763, essv6735522, essv6831840, essv6725025, essv6721236, essv6867839, essv6779986, essv6788333, essv6949672, essv6888435, essv6800813, essv6891733, essv6721237, essv6846368, essv6871140, essv6960200, essv6924881, essv6699117, essv6665547, essv6843013, essv6839192, essv6815922, essv6898032, essv6928377, essv6809800, essv6678364, essv6812618, essv6852066, essv6678363, essv6732686, essv6692065, essv6877089, essv6891734, essv6685552, essv6755962, essv6766077, essv6728841, essv6709926, essv6932460, essv6703024, essv6858037, essv6835407, essv6682085, essv6966686, essv6776215, essv6879866, essv6678362, essv6744390, essv6796600, essv6885439, essv6971406, essv6779987, essv6784161, essv6761351, essv6905430, essv6717348, essv6867840, essv6940934, essv6835368, essv6714243, essv6913148, essv6809801, essv6966684, essv6752939, essv6838542, essv6916637, essv6763716, essv6820312, essv6945550, essv6738258, essv6920777, essv6911885, essv6688703, essv6960199, essv6741529, essv6721195
SamplesSSM059, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, 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, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM034, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known Genes
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)esv2714382
Frequency
Sample Size96
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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