A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714417



Internal ID10298053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46387131..46398583hg38UCSC Ensembl
Outerchr16:46421043..46432495hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3811453
hg1911453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6943295, essv6945586, essv6858033, essv6885443, essv6846371, essv6800816, essv6936766, essv6924879, essv6870843, essv6820313, essv6717352, essv6750041, essv6936765, essv6812620, essv6803892, essv6674055, essv6721240, essv6831818, essv6674058, essv6901813, essv6665549, essv6732673, essv6909419, essv6932453, essv6831846, essv6867850, essv6852067, essv6768918, essv6665548, essv6911874, essv6772630, essv6898029, essv6828266, essv6846372, essv6735524, essv6768907, essv6696117, essv6728838, essv6820315, essv6924882, essv6831827, essv6788334, essv6717351, essv6911896, essv6879863, essv6949655, essv6874063, essv6877092, essv6753486, essv6772629, essv6688720, essv6863050, essv6800823, essv6828263, essv6895162, essv6810321, essv6871144, essv6870786, essv6909420, essv6885444, essv6843016, essv6665553, essv6871145, essv6846367, essv6960205, essv6721247, essv6784164, essv6738252, essv6901036, essv6796612, essv6863039, essv6874068, essv6940932, essv6879878, essv6975840, essv6742509, essv6879879, essv6682086, essv6758578, essv6901030, essv6909411, essv6877090, essv6732690, essv6966677, essv6916654, essv6742520, essv6936767, essv6863051, essv6699116, essv6863040, essv6901812, essv6966685, essv6966676, essv6682082, essv6779990, essv6871147, essv6744389, essv6839193, essv6812617, essv6809804, essv6920781, essv6966687, essv6835406, essv6831828, essv6742531, essv6953839, essv6824184, essv6871146, essv6913150, essv6913149, essv6888440, essv6891719, essv6776214, essv6713450, essv6806782, essv6800824, essv6682087, essv6741530, essv6725029, essv6877088, essv6882744, essv6665552, essv6828269, essv6867845, essv6692070, essv6879864, essv6776799, essv6940935, essv6706686, essv6776788, essv6905435, essv6792423, essv6674056, essv6916656, essv6885440, essv6852053, essv6898030, essv6971411, essv6885445, essv6888419, essv6753375, essv6706668, essv6685546, essv6815930, essv6975851, essv6763714, essv6913148, essv6747213, essv6741532, essv6839171, essv6674057, essv6852063, essv6928405, essv6755963, essv6911863, essv6753597, essv6975829, essv6920782, essv6732691, essv6810354
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, 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)esv2714417
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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