A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725670



Internal ID10309306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:98128031..98202730hg38UCSC Ensembl
Outerchr3:97846875..97921574hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3874700
hg1974700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv777e201
Supporting Variantsessv6753960, essv6679746, essv6817290, essv6742582, essv6742580, essv6904373, essv6849087, essv6880859, essv6773991, essv6723166, essv6754042, essv6754053, essv6675786, essv6711173, essv6875156, essv6762193, essv6789767, essv6773989, essv6742581, essv6669930, essv6880857, essv6699277, essv6929708, essv6872171, essv6955028, essv6880855, essv6733869, essv6699288, essv6836153, essv6723177, essv6821742, essv6697407, essv6955017, essv6770126, essv6756928, essv6973488, essv6820966, essv6723188, essv6955787, essv6880856, essv6762192, essv6922360, essv6697405, essv6777508, essv6739344, essv6756927, essv6726420, essv6872168, essv6825630, essv6889525, essv6817291, essv6854140, essv6955006, essv6933939, essv6922362, essv6918045, essv6689782, essv6810750, essv6798082, essv6753962, essv6954995, essv6820988, essv6798083, essv6699299, essv6804869, essv6785640, essv6689781, essv6739343, essv6686627, essv6793914, essv6777507, essv6938273, essv6844372, essv6675785, essv6918046, essv6844371, essv6756926, essv6722573, essv6962506, essv6942490, essv6926184, essv6821744, essv6904262, essv6951183, essv6820999, essv6820977, essv6798081, essv6789768, essv6679748, essv6679745, essv6711174, essv6922363, essv6793917, essv6745364, essv6833122, essv6686628, essv6759489, essv6962508, essv6821741, essv6789399, essv6883682, essv6770124, essv6872167, essv6789421, essv6700276, essv6689780, essv6836733, essv6942492, essv6904151, essv6973489, essv6817292, essv6807845, essv6926186, essv6875157, essv6736433, essv6753961, essv6733870, essv6697406, essv6951182, essv6722572, essv6904040, essv6914468, essv6836487, essv6886404, essv6707777, essv6813673, essv6699310, essv6810749, essv6820955, essv6754030, essv6878084, essv6875158, essv6793916, essv6723199, essv6793915, essv6726419, essv6793913, essv6804870, essv6942489, essv6889524, essv6714818, essv6914469, essv6707778, essv6686629, essv6883683, essv6833120, essv6933942, essv6753959, essv6785641, essv6878085, essv6714819, essv6722574, essv6914470, essv6883684, essv6689783, essv6770125, essv6951181, essv6781490, essv6878083, essv6810748, essv6929704, essv6955788, essv6699266, essv6802050, essv6689784, essv6813674, essv6785642, essv6756929, essv6918047, essv6789410, essv6781491, essv6675788, essv6938272, essv6918044, essv6714822, essv6854142, essv6722571, essv6942491, essv6872169, essv6773990, essv6804868, essv6679747, essv6854143, essv6836376, essv6933940, essv6880858, essv6875155, essv6714817, essv6955786, essv6836264, essv6929705, essv6745366
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM002, SSM041, SSM023, SSM058, SSM092, SSM021, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM001, SSM033, SSM066, SSM006, SSM085, SSM068, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM080, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM043, SSM052, SSM049
Known GenesOR5H1, OR5H14, OR5H15
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)esv2725670
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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