A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2761169

Internal ID10028531
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7001293..8214781hg38UCSC Ensembl
Innerchr8:6858815..8072303hg19UCSC Ensembl
Innerchr8:6846225..8109713hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7015880, essv7015899, essv7015865, essv7015930, essv7015994, essv7015977, essv7015877, essv7015891, essv7015875, essv7015923, essv7015886, essv7016020, essv7015929, essv7016017, essv7015901, essv7015983, essv7015917, essv7015937, essv7015950, essv7015964, essv7015920, essv7015962, essv7015949, essv7015992, essv7015980, essv7015907, essv7016045, essv7015913, essv7016031, essv7015981, essv7016004, essv7016051, essv7016013, essv7015987, essv7016030, essv7015963, essv7016037, essv7015988, essv7015961, essv7015925, essv7015953, essv7015897, essv7015881, essv7016016, essv7015876, essv7016049, essv7015868, essv7015874, essv7015932, essv7016032, essv7015982, essv7015869, essv7016035, essv7016040, essv7015919, essv7016025, essv7015965, essv7015931, essv7016008, essv7016048, essv7015896, essv7015958, essv7015888, essv7015960, essv7016046, essv7015910, essv7015979, essv7015984, essv7016042, essv7015915, essv7016047, essv7015883, essv7015997, essv7015893, essv7015906, essv7015879, essv7015904, essv7015918, essv7016034, essv7015884, essv7016038, essv7016036, essv7015870, essv7015898, essv7016014, essv7015866, essv7016019, essv7015892, essv7016009, essv7016024, essv7015969, essv7015970, essv7015959, essv7016041, essv7015938, essv7015926, essv7015934, essv7015985, essv7016043, essv7015946, essv7015902, essv7015905, essv7015871, essv7015939, essv7016028, essv7016005, essv7015996, essv7015936, essv7015993, essv7016050, essv7015971, essv7015952, essv7015928, essv7016029, essv7015948, essv7016015, essv7015882, essv7015887, essv7015972, essv7015916, essv7015945, essv7015890, essv7015974, essv7015908, essv7016006, essv7015991, essv7015895, essv7016003, essv7015942, essv7015975, essv7015956, essv7015995, essv7015914, essv7015998, essv7015909, essv7015947, essv7015885, essv7016023, essv7016026, essv7015912, essv7015957, essv7015973, essv7016010, essv7016018, essv7015927, essv7015943, essv7015940, essv7016012, essv7015935, essv7015968, essv7015951, essv7015999, essv7016027, essv7015976, essv7015873, essv7016002, essv7016039, essv7015986, essv7015954, essv7015921, essv7015924, essv7015990, essv7016007, essv7015894, essv7015903, essv7015872, essv7015941, essv7016021, essv7016001
SamplesRW_0281, RW_0118, RW_0331, RW_0123, RW_0520, RW_0119, RW_0645, RW_0129, RW_0194, RW_0176, RW_0105, RW_0179, RW_0197, RW_0548, RW_0029, RW_0570, RW_0154, RW_0567, RW_0620, RW_0181, RW_0189, RW_0269, RW_0093, RW_0619, RW_0270, RW_0273, RW_0577, RW_0258, RW_0292, RW_0608, RW_0173, RW_0186, RW_0541, RW_0167, RW_0162, RW_0021, RW_0024, RW_0509, RW_0623, RW_0208, RW_0549, RW_0611, RW_0664, RW_0152, RW_0144, RW_0506, RW_0646, RW_0140, RW_0223, RW_0500, RW_0069, RW_0650, RW_0316, RW_0544, RW_0158, RW_0293, RW_0603, RW_0239, RW_0250, RW_0217, RW_0592, RW_0209, RW_0311, RW_0633, RW_0526, RW_0068, RW_0314, RW_0256, RW_0351, RW_0632, RW_0589, RW_0204, RW_0200, RW_0106, RW_0268, RW_0524, RW_0212, RW_0617, RW_0092, RW_0522, RW_0253, RW_0312, RW_0306, RW_0085, RW_0566, RW_0345, RW_0004, RW_0361, RW_0099, RW_0034, RW_0336, RW_0007, RW_0110, RW_0599, RW_0286, RW_0575, RW_0583, RW_0538, RW_0003, RW_0192, RW_0659, RW_0132, RW_0653, RW_0195, RW_0605, RW_0324, RW_0047, RW_0149, RW_0074, RW_0169, RW_0147, RW_0061, RW_0233, RW_0590, RW_0266, RW_0353, RW_0251, RW_0640, RW_0137, RW_0555, RW_0235, RW_0120, RW_0025, RW_0525, RW_0635, RW_0602, RW_0048, RW_0125, RW_0305, RW_0139, RW_0203, RW_0512, RW_0536, RW_0553, RW_0254, RW_0518, RW_0056, RW_0079, RW_0515, RW_0032, RW_0586, RW_0011, RW_0177, RW_0639
Known GenesDEFA1, DEFA11P, DEFA1B, DEFA3, DEFA5, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, DEFT1P, DEFT1P2, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
Pubmed ID21179565
Accession Number(s)esv2761169
Sample Size1109
Observed Gain71
Observed Loss88
Observed Complex0

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