A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718922



Internal ID9953214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54744310..54826813hg38UCSC Ensembl
Outerchr19:55255758..55338268hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3882504
hg1982511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv534e201
Supporting Variantsessv6725570, essv6905892, essv6780564, essv6764050, essv6950247, essv6925430, essv6747616, essv6713996, essv6832344, essv6877492, essv6905893, essv6699435, essv6717576, essv6868476, essv6902301, essv6835923, essv6764049, essv6815031, essv6863681, essv6682611, essv6921444, essv6835922, essv6741948, essv6747618, essv6858841, essv6895618, essv6937395, essv6758904, essv6921445, essv6928845, essv6685955, essv6915140, essv6786487, essv6954430, essv6967560, essv6674870, essv6954431, essv6950249, essv6725566, essv6835927, essv6946202, essv6782343, essv6895620, essv6937398, essv6797178, essv6801368, essv6746698, essv6828778, essv6782288, essv6961088, essv6921448, essv6725568, essv6820946, essv6902302, essv6685953, essv6685956, essv6921438, essv6842231, essv6717521, essv6717499, essv6733241, essv6666556, essv6666554, essv6738669, essv6667365, essv6780566, essv6733240, essv6780562, essv6750437, essv6933032, essv6871535, essv6678920, essv6880267, essv6666551, essv6786153, essv6874503, essv6668768, essv6741952, essv6782332, essv6746710, essv6950250, essv6780561, essv6761703, essv6921447, essv6895619, essv6725567, essv6741953, essv6863682, essv6950253, essv6717554, essv6810185, essv6874505, essv6937394, essv6883107, essv6925431, essv6773188, essv6668770, essv6928848, essv6967558, essv6832341, essv6682612, essv6874853, essv6832345, essv6858839, essv6858842, essv6725569, essv6937393, essv6750441, essv6902300, essv6780563, essv6717565, essv6678914, essv6928846, essv6801374, essv6921442, essv6717532, essv6756390, essv6877493, essv6667377, essv6678909, essv6741949, essv6832347, essv6901431, essv6871533, essv6843614, essv6738670, essv6846783, essv6832342, essv6721744, essv6793005, essv6921449, essv6835926, essv6961083, essv6880266, essv6843613, essv6967559, essv6928849, essv6946201, essv6971996, essv6780574, essv6950245, essv6666553, essv6780558, essv6915152, essv6810184, essv6733242, essv6801369, essv6766394, essv6843609, essv6766393, essv6741955, essv6843617, essv6863679, essv6674872, essv6874504, essv6733244, essv6667354, essv6832346, essv6843608, essv6744774, essv6721747, essv6678919, essv6898430, essv6832340, essv6868477, essv6776713, essv6750439, essv6961087, essv6913735, essv6843615, essv6928844, essv6917191, essv6921443, essv6835925, essv6721745, essv6874506, essv6917192, essv6815043, essv6780573, essv6835924, essv6898429, essv6674871, essv6744777, essv6747617, essv6773189, essv6793003, essv6895617, essv6871532, essv6750433, essv6950248, essv6666552, essv6858840, essv6717912, essv6793004, essv6950252, essv6883110, essv6733248, essv6710380, essv6721746, essv6937397, essv6717510, essv6678913, essv6738671, essv6750435, essv6780567, essv6967561, essv6678915
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM006, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM078, SSM043, SSM088, SSM089, SSM090, SSM031, SSM025, SSM072, SSM020, SSM071, SSM016, SSM001, SSM032, SSM024, SSM045, SSM067, SSM094, SSM050, SSM041, SSM062, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM030, SSM047, SSM021, SSM002, SSM034, SSM063, SSM087, SSM038, SSM019, SSM023, SSM052, SSM044, SSM004, SSM075, SSM015, SSM026, SSM008, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, LOC100287534
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)esv2718922
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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