A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv247e214

Internal ID20121670
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8208160..8237249hg38UCSC Ensembl
chr12:8360756..8389845hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3628458, esv3628459
SamplesNA18642, HG01610, HG02725, HG03697, NA11881, NA18621, HG01761, HG00309, HG03858, NA12154, HG00252, NA20351, NA18616, NA20771, HG01104, HG02371, NA19734, HG01530, HG02649, NA18951, NA20862, HG01896, HG01852, NA18630, HG00234, NA12286, NA12342, HG00328, HG00350, HG03886, HG02661, NA18966, HG00351, HG01173, NA11920, HG01083, HG02727, HG00131, HG01105, HG00155, HG01970, HG00160, HG02792, HG01777, HG01927, NA10847, HG01031, HG01197, HG00657, HG03896, HG01051, HG01615, NA19788, NA20800, NA12828, HG00475, HG01915, HG03642, HG00148, HG01200, HG02029, HG01350, HG01605, NA18541, HG01606, HG01507, HG02497, NA12058, NA20539, HG00683, HG01708, HG02274, HG03491, HG03951, HG01101, HG03833, HG03696, HG00113, HG02355, HG03949, HG00253, HG01936, HG03812, NA18745, NA12287, HG04106, NA19761, HG01171, HG03863, HG00353, HG01840, NA18949, HG03752, HG03817, NA19077, HG01917, HG01107, HG01550, HG00158, HG02390, NA20505, NA11919, HG01384, NA18967, HG04188, NA19076, HG01312, HG03779, HG00240, HG01305, NA18622, HG01756, NA18623, HG00759, HG01398, HG01583, HG01866, NA18990, HG01088, HG01694, HG00121, HG04198, HG01965, HG03787, NA12761, HG00149, HG00338, HG03793, HG00533, NA18609, NA21116, HG01360, HG02143, NA20520, HG00451, HG01867, NA11995, HG04063, HG00284, NA12234, HG00662, HG03742, NA19728, HG02236, HG00267, NA19080, HG01097, HG01516, NA18633, HG00653, HG01191, HG00640, HG03922, NA18939, HG00325, NA19716, HG00185, HG00383, HG00255, HG04158, NA20753, HG00851, HG02786, HG01281, NA19664, HG00672, HG02017, HG01170, HG02558, NA20878, HG02266, HG02386, HG00101, HG01494, NA20542, NA21093, NA20766, HG00525, HG01805, NA21092, HG01341, HG02084, NA20813, HG02374, NA19777, HG01565, HG00445, NA12272, HG01095, HG04033, NA19723, NA20827, HG01939, HG02070, HG02154, NA18740, NA12413, NA12812, NA20850, HG02181, HG02230, HG00118, NA19755, HG00608, HG00654, HG01945, HG01485, NA20810, HG00285, HG02702, NA12399, NA19717, NA20812, HG00238, NA12546, HG01323, HG00422, HG02089, HG03857, HG04177, NA19006, HG02409, HG01951, NA18610, NA20832, HG02353, NA11932, HG00566, HG00251, NA20768, HG00119, HG01498, HG01791, HG00324, HG02136, HG01522, NA18981, HG00598, HG03885, HG04006, NA20524, HG01479, HG01781, NA12760, HG01857, HG03826, NA20517, NA20538, HG00704, HG01932, HG02064, HG04195, NA18555, NA19007, NA19661, HG01976, HG03490, HG04182, HG02215, HG02774, HG01474, HG01503, HG01980, HG03950, NA07000, NA19746, NA18629, HG01067, HG01354, HG00128, HG02253, HG00327, HG01198, HG03689, HG03937, HG02691, HG01513, HG01613, NA20887, HG00881, HG03832, HG02793, NA12750, NA12748, HG01675, NA07037, NA20522, HG01700, HG00344, HG00743, HG01130, HG01302, HG04003, NA20785, HG02697, HG01075, HG03977, NA20506, HG00127, NA18975, HG01205, NA20516, HG00245, HG01858, HG03634, NA19003, HG01935, HG02006, NA18993, NA20294, HG01624, HG03643, HG01085, HG02014, NA18591, HG01685, NA19010, HG02002, HG02733, HG00326, HG01432, HG01491, HG02652, NA20778, NA20786, NA21130, NA18542, HG01182, HG01131, HG01680, HG01954, HG02389, HG03680, HG03585, HG01204, HG01577, HG01571, HG02778, NA21120, HG01348, HG01950, HG04061, NA19776, NA19654, HG01521, HG00256, HG00342, NA21106, HG00115, HG04238, HG01924, HG02008, NA19726, NA19067, HG01086, HG02360, NA18624, HG01140, HG01456, HG03736, HG01510, HG02654, NA20356, NA20515, HG02696, HG01672, HG03021, NA19068, HG01865, NA12155, HG01623, HG02292, NA20908, HG02577, NA21127, HG03899, HG01047, NA20807, HG03911, HG00628, HG04194, HG03727, HG03844, NA18638, HG03805, HG01396, HG03965, HG03871, HG00258, HG01997, NA12829, NA19835, HG01707, HG02356, NA19679, HG04227, NA18643, HG00237, NA18539, NA20773, HG02239, NA12006, HG02603, HG01948, HG02304, HG02131, HG02490, NA12046, NA19785, NA18620, HG00360, HG01308, NA18954, NA20126, HG03995, NA20512, NA06985, HG00629, HG00260, HG01121, HG02040, NA20540, NA20822, HG04080, HG01967, HG03974, HG01699, HG01786, HG02787, HG00478, HG01257, NA20774, HG02147, HG03733, HG02384, HG00341, HG01070, HG00105, HG01767, NA19074, NA18579, HG00589, NA18945, HG02026, HG00410, HG02406, HG01779, NA11832, NA10851, NA18999, NA20534, HG01326, NA18983, NA18567, HG01971, NA19078, HG03789, HG01673, HG01953, HG01269, HG00138, NA20867, HG03989, HG00262, HG03702, NA18560, HG00378, HG02186, NA20509, HG01412, NA11992, NA18946, NA19770, NA19749, HG00281, NA19063, HG01619
Known GenesFAM86FP, FAM90A1
PlatformMultiple platforms
Pubmed ID21293372
Accession Number(s)dgv247e214
Sample Size2504
Observed Gain477
Observed Loss0
Observed Complex0

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