A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630401



Internal ID7017220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93501038..93501927hg38UCSC Ensembl
Innerchr12:93501038..93501927hg38UCSC Ensembl
Outerchr12:93500826..93502299hg38UCSC Ensembl
chr12:93894814..93895703hg19UCSC Ensembl
Innerchr12:93894814..93895703hg19UCSC Ensembl
Outerchr12:93894602..93896075hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14571646, essv14571577, essv14571362, essv14571337, essv14571486, essv14571627, essv14571516, essv14571548, essv14571729, essv14571590, essv14571585, essv14571354, essv14571682, essv14571614, essv14571513, essv14571717, essv14571380, essv14571333, essv14571638, essv14571296, essv14571642, essv14571553, essv14571599, essv14571616, essv14571451, essv14571336, essv14571308, essv14571391, essv14571359, essv14571695, essv14571628, essv14571746, essv14571478, essv14571679, essv14571669, essv14571512, essv14571475, essv14571343, essv14571592, essv14571357, essv14571655, essv14571593, essv14571554, essv14571530, essv14571424, essv14571543, essv14571502, essv14571671, essv14571320, essv14571732, essv14571658, essv14571364, essv14571588, essv14571338, essv14571474, essv14571330, essv14571482, essv14571318, essv14571675, essv14571731, essv14571670, essv14571739, essv14571517, essv14571633, essv14571458, essv14571379, essv14571350, essv14571324, essv14571613, essv14571422, essv14571697, essv14571476, essv14571649, essv14571600, essv14571439, essv14571750, essv14571714, essv14571396, essv14571615, essv14571709, essv14571447, essv14571472, essv14571574, essv14571710, essv14571367, essv14571597, essv14571363, essv14571752, essv14571742, essv14571647, essv14571311, essv14571549, essv14571662, essv14571561, essv14571298, essv14571625, essv14571598, essv14571500, essv14571480, essv14571612, essv14571462, essv14571305, essv14571368, essv14571541, essv14571467, essv14571449, essv14571395, essv14571676, essv14571495, essv14571713, essv14571533, essv14571366, essv14571373, essv14571505, essv14571348, essv14571696, essv14571652, essv14571496, essv14571344, essv14571503, essv14571342, essv14571691, essv14571382, essv14571383, essv14571504, essv14571300, essv14571433, essv14571535, essv14571448, essv14571403, essv14571511, essv14571417, essv14571414, essv14571297, essv14571492, essv14571456, essv14571666, essv14571372, essv14571578, essv14571540, essv14571397, essv14571611, essv14571604, essv14571687, essv14571423, essv14571365, essv14571594, essv14571595, essv14571346, essv14571518, essv14571436, essv14571369, essv14571722, essv14571326, essv14571699, essv14571454, essv14571542, essv14571573, essv14571550, essv14571724, essv14571455, essv14571387, essv14571520, essv14571490, essv14571392, essv14571443, essv14571355, essv14571605, essv14571624, essv14571718, essv14571568, essv14571390, essv14571360, essv14571744, essv14571465, essv14571726, essv14571514, essv14571444, essv14571435, essv14571693, essv14571429, essv14571299, essv14571680, essv14571557, essv14571319, essv14571657, essv14571551, essv14571532, essv14571375, essv14571332, essv14571721, essv14571648, essv14571665, essv14571701, essv14571471, essv14571445, essv14571698, essv14571528, essv14571407, essv14571534, essv14571477, essv14571461, essv14571421, essv14571622, essv14571426, essv14571705, essv14571377, essv14571552, essv14571493, essv14571489, essv14571668, essv14571547, essv14571707, essv14571412, essv14571751, essv14571610, essv14571583, essv14571351, essv14571558, essv14571295, essv14571450, essv14571402, essv14571310, essv14571725, essv14571485, essv14571321, essv14571617, essv14571663, essv14571728, essv14571678, essv14571684, essv14571491, essv14571381, essv14571312, essv14571488, essv14571440, essv14571620, essv14571576, essv14571294, essv14571580, essv14571457, essv14571463, essv14571640, essv14571740, essv14571507, essv14571664, essv14571352, essv14571353, essv14571468, essv14571510, essv14571501, essv14571569, essv14571399, essv14571562, essv14571328, essv14571304, essv14571609, essv14571406, essv14571441, essv14571601, essv14571529, essv14571481, essv14571639, essv14571644, essv14571527, essv14571572, essv14571587, essv14571470, essv14571306, essv14571479, essv14571749, essv14571626, essv14571636, essv14571314, essv14571411, essv14571303, essv14571632, essv14571315, essv14571654, essv14571524, essv14571483, essv14571712, essv14571694, essv14571738, essv14571686, essv14571634, essv14571570, essv14571521, essv14571537, essv14571538, essv14571389, essv14571497, essv14571641, essv14571689, essv14571509, essv14571339, essv14571564, essv14571419, essv14571702, essv14571466, essv14571690, essv14571398, essv14571589, essv14571743, essv14571619, essv14571586, essv14571735, essv14571596, essv14571566, essv14571544, essv14571349, essv14571608, essv14571606, essv14571653, essv14571645, essv14571602, essv14571409, essv14571571, essv14571484, essv14571747, essv14571584, essv14571459, essv14571317, essv14571683, essv14571607, essv14571494, essv14571748, essv14571345, essv14571374, essv14571651, essv14571623, essv14571525, essv14571446, essv14571591, essv14571603, essv14571688, essv14571506, essv14571643, essv14571487, essv14571384, essv14571370, essv14571515, essv14571473, essv14571335, essv14571376, essv14571575, essv14571659, essv14571555, essv14571452, essv14571386, essv14571428, essv14571341, essv14571629, essv14571420, essv14571415, essv14571453, essv14571704, essv14571711, essv14571567, essv14571302, essv14571734, essv14571581, essv14571316, essv14571716, essv14571681, essv14571442, essv14571508, essv14571469, essv14571536, essv14571539, essv14571437, essv14571720, essv14571545, essv14571531, essv14571394, essv14571371, essv14571630, essv14571460, essv14571546, essv14571719, essv14571677, essv14571673, essv14571309, essv14571656, essv14571526, essv14571556, essv14571307, essv14571715, essv14571727, essv14571438, essv14571733, essv14571432, essv14571499, essv14571685, essv14571522, essv14571418, essv14571730, essv14571661, essv14571565, essv14571631, essv14571329, essv14571322, essv14571708, essv14571582, essv14571723, essv14571579, essv14571650, essv14571430, essv14571560, essv14571434, essv14571400, essv14571427, essv14571347, essv14571340, essv14571706, essv14571413, essv14571692, essv14571674, essv14571563, essv14571621, essv14571405, essv14571737, essv14571356, essv14571464, essv14571745, essv14571667, essv14571736, essv14571741, essv14571431, essv14571404, essv14571519, essv14571313, essv14571635, essv14571416, essv14571637, essv14571618, essv14571498, essv14571703, essv14571323, essv14571325, essv14571361, essv14571334, essv14571408, essv14571301, essv14571559, essv14571331, essv14571672, essv14571700, essv14571378, essv14571385, essv14571660, essv14571393, essv14571327, essv14571523, essv14571425, essv14571410, essv14571401, essv14571388, essv14571358
SamplesNA18745, HG02658, HG00442, HG01918, HG01965, HG00608, HG02385, NA18947, NA19664, NA19066, HG00242, HG00559, NA12414, HG02026, HG03687, NA20514, HG00766, NA21100, NA11920, NA18999, NA18528, HG00244, NA18639, HG01806, NA21137, NA19684, NA18530, HG01947, HG00449, HG02356, HG01051, NA20771, NA18602, HG00693, NA18988, NA18969, HG03837, HG03603, HG00138, NA19089, HG01350, HG00356, NA18940, HG00589, HG03016, NA18597, NA20589, HG02140, NA19678, HG02156, HG01676, NA18567, HG02266, NA18618, HG02860, NA07048, NA11918, HG01528, HG00355, HG01365, HG00334, HG00537, HG00311, HG03917, HG00158, HG04033, HG00139, NA19923, HG03817, HG03910, HG01849, HG00534, HG02082, HG03947, NA18966, HG04020, HG00160, HG00118, NA18990, HG01844, NA18557, HG02260, NA18985, HG01771, HG01626, HG00326, NA20757, HG00323, NA20515, HG02164, NA20753, HG02134, HG01565, HG01124, HG00349, HG00137, HG00154, NA18951, NA18747, NA20800, NA18538, HG00266, NA19091, HG01435, HG00282, NA19070, NA19056, NA19670, NA18525, NA19006, HG02075, HG00332, HG00557, HG02142, HG01669, HG02380, NA20885, HG03928, NA19717, HG01979, HG00132, NA19081, HG03575, HG02522, HG03805, HG01149, NA18948, HG01675, HG04177, HG00239, NA19064, HG03301, NA20867, HG03730, HG00651, HG00250, NA19084, NA21124, NA11893, HG03713, NA11840, HG00684, HG04173, HG03631, NA20856, HG02259, NA18532, NA19752, NA19059, NA18555, HG03914, HG00463, HG04159, HG02332, HG01936, HG00099, HG00864, NA18570, HG01988, NA19625, HG02127, NA18953, HG02660, HG00407, NA19003, HG00258, NA20851, HG00382, HG02089, HG04227, HG00265, NA19072, HG00580, HG03695, HG01685, NA20870, HG03920, NA19090, HG01939, HG01396, NA19010, HG01174, NA21123, NA19835, HG02982, HG00473, HG02179, NA19428, NA20544, NA19083, HG00662, NA18610, HG02133, NA20897, HG01577, HG02373, NA19785, HG02147, HG03097, NA19716, NA20852, HG03716, HG02768, HG00280, HG02182, HG03925, NA19780, HG02681, HG02348, HG02774, HG01794, HG02855, HG01125, HG00171, NA18623, NA20585, NA19063, NA19065, HG01927, NA18577, NA21091, NA20772, HG03864, HG00626, HG00403, HG04212, NA21110, HG02652, HG01795, HG02250, HG01356, NA19055, HG00536, HG01961, NA18592, HG01359, HG01348, HG00524, HG01855, HG00100, HG02648, HG02262, HG01280, HG01188, HG02150, NA19734, NA21092, HG02275, NA12045, HG00367, HG01465, NA18545, HG01686, HG02277, HG00364, HG03963, NA21115, HG01944, HG01456, NA18625, NA12058, HG04164, HG00179, HG00341, NA19669, HG00879, HG01140, NA12413, NA12341, HG01924, HG03074, HG04100, NA19076, HG02312, NA18944, NA18550, NA12812, HG03086, HG01366, HG01070, HG00109, NA20861, NA19723, NA18982, NA18635, NA18619, HG04144, HG03485, NA20905, HG01945, HG01843, HG01710, HG01599, NA18942, HG03905, HG02655, NA19054, HG03911, HG01848, HG01982, HG01668, NA18964, HG00590, NA20541, HG03830, HG03460, NA19651, HG01067, HG00379, HG02003, NA18977, HG03595, HG01813, NA19719, NA18560, HG01046, NA19075, NA21107, NA19087, NA12815, HG03995, NA19159, HG00182, HG01259, HG03750, NA12828, HG03055, NA18975, NA21114, NA20533, NA18640, NA18954, HG00419, HG03048, HG00464, HG03169, HG01942, HG01699, HG01603, NA19007, HG03709, HG00313, HG02402, HG01136, NA20854, HG02166, HG02265, HG00629, NA19657, NA19082, HG04225, HG01595, HG01384, HG04062, NA12003, HG02236, HG01864, HG01271, HG00653, HG00701, HG01612, HG00320, HG04035, NA19658, NA18910, HG02102, HG01880, NA20767, HG03919, HG01852, HG01948, HG00708, HG02789, HG01094, HG01414, HG03824, NA21141, NA11894, HG02008, HG01383, NA18946, HG03974, HG00117, HG02283, HG00613, NA19740, HG01842, HG01705, HG04152, NA20828, HG01286, NA19160, HG03774, HG02399, NA20534, NA18945, HG00128, HG01992, NA21143, HG01363, HG02613, NA18542, HG03833, HG03778, HG02684, NA12716, HG00119, NA18535, NA18961, NA18952, NA18543, HG02696, HG02682, HG02983, HG02064, NA18941, HG00623, NA20785, HG01951, HG01494, HG01933, HG01260, HG02685, NA20797, NA21126, HG03681, HG01991, HG01862, HG02398, HG00371, HG01432, HG01917, HG00409, NA20868, HG03896, HG01028, NA19060, HG00421, HG02654, HG01055, HG00174, NA12830, HG01089, HG03684, HG02410, NA19726, HG01872, HG03894, HG02186, NA19661, HG01775, NA19004, NA07000, HG03698, HG02006, HG01583, HG00437, NA18965, HG01976
Known GenesMRPL42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630401
Frequency
Sample Size2504
Observed Gain0
Observed Loss459
Observed Complex0
Frequencyn/a


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