A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718911



Internal ID9953203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54725944..54825736hg38UCSC Ensembl
Outerchr19:55237410..55337191hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3899793
hg1999782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv534e201
Supporting Variantsessv6967558, essv6832346, essv6733239, essv6717521, essv6946201, essv6948207, essv6674870, essv6921448, essv6880261, essv6843607, essv6780568, essv6668765, essv6928848, essv6946197, essv6666550, essv6801369, essv6668768, essv6880266, essv6678911, essv6843612, essv6832341, essv6937391, essv6793000, essv6717488, essv6858838, essv6782321, essv6750433, essv6801371, essv6843606, essv6843613, essv6741949, essv6793001, essv6874497, essv6843608, essv6678920, essv6733244, essv6832339, essv6898430, essv6921439, essv6874511, essv6946198, essv6780572, essv6784706, essv6721739, essv6750441, essv6721746, essv6717565, essv6874505, essv6835922, essv6846779, essv6810184, essv6750437, essv6820945, essv6729369, essv6950255, essv6921437, essv6678913, essv6780562, essv6895616, essv6685956, essv6933030, essv6925430, essv6801373, essv6667365, essv6810185, essv6925426, essv6928846, essv6788879, essv6786153, essv6733240, essv6883110, essv6801368, essv6747615, essv6925427, essv6733235, essv6937393, essv6747617, essv6733237, essv6874506, essv6713996, essv6710380, essv6874510, essv6902300, essv6950246, essv6921444, essv6950244, essv6933026, essv6747616, essv6880263, essv6793004, essv6928843, essv6950243, essv6895619, essv6744775, essv6721742, essv6832342, essv6713992, essv6863681, essv6750435, essv6874504, essv6874864, essv6843609, essv6733247, essv6725567, essv6877485, essv6877491, essv6846783, essv6832344, essv6717532, essv6780559, essv6835919, essv6797177, essv6832338, essv6925425, essv6713995, essv6874853, essv6967561, essv6717499, essv6801372, essv6871532, essv6678919, essv6871535, essv6846780, essv6961083, essv6905892, essv6678915, essv6921443, essv6780567, essv6741952, essv6921447, essv6928849, essv6721744, essv6842220, essv6843615, essv6666552, essv6880262, essv6883106, essv6950253, essv6780573, essv6868477, essv6780561, essv6780560, essv6717554, essv6895618, essv6895617, essv6835926, essv6950245, essv6666554, essv6780563, essv6780557, essv6901430, essv6921436, essv6921442, essv6858839, essv6928845, essv6835921, essv6828778, essv6835918, essv6950252, essv6921438, essv6946200, essv6696760, essv6721738, essv6868478, essv6733248, essv6937389, essv6750434, essv6667354, essv6835924, essv6874499, essv6898429, essv6780569, essv6874501, essv6685955, essv6741948, essv6832340, essv6950250, essv6780574, essv6793003, essv6925431, essv6792999, essv6933027, essv6733236, essv6828777, essv6729370, essv6937392, essv6725566, essv6863679, essv6725564, essv6950248, essv6917192, essv6729371, essv6773188, essv6678909, essv6721740, essv6933032, essv6666556, essv6780566, essv6874500, essv6874502, essv6843611, essv6917191, essv6666551, essv6782288, essv6758904, essv6674868, essv6898427, essv6928839, essv6780558, essv6967560, essv6782299, essv6780564, essv6793002, essv6733238, essv6835925, essv6666553, essv6858841, essv6921441, essv6868476, essv6782277, essv6937397, essv6738669, essv6898428, essv6678912, essv6674872, essv6933029, essv6846778, essv6733241, essv6835927, essv6913734, essv6744774
SamplesSSM100, SSM059, SSM008, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM065, SSM087, SSM013, SSM093, SSM050, SSM042, SSM088, SSM041, SSM023, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM010, SSM091, SSM055, SSM070, SSM034, SSM004, SSM099, SSM052, SSM098, SSM056, SSM030, SSM012
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, KIR3DL3, 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)esv2718911
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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