A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678134



Internal ID9597553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189645631..189653110hg38UCSC Ensembl
chr3:189363420..189370899hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387480
hg197480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5570518, essv6018967, essv6330394, essv6186551, essv5684181, essv5992141, essv5622272, essv6276435, essv6536253, essv6133260, essv5552620, essv5553823, essv6438954, essv5988899, essv6069426, essv6362684, essv6543490, essv6000585, essv6441108, essv5468804, essv6105516, essv5437471, essv6087200, essv5850133, essv6345587, essv6036034, essv6022868, essv5500729, essv5748891, essv6096404, essv6535506, essv6405037, essv5891525, essv6472800, essv6362527, essv5416540, essv5421606, essv5841225, essv5440671, essv5566161, essv6095980, essv6025127, essv5573155, essv6071734, essv6127946, essv5719462, essv6197957, essv5431357, essv5947606, essv6035785, essv5669296, essv6465184, essv5856651, essv5692829, essv5871191, essv5859747, essv5542832, essv5607096, essv5448606, essv5550662, essv6113208, essv6009066, essv5618255, essv6019853, essv6161788, essv5956251, essv5796199, essv6433009, essv5825465, essv6461682, essv5452893, essv5579531, essv6365250, essv5430348, essv5644382, essv5940615, essv5490220, essv6590010, essv6338875, essv6441966, essv5776655, essv5401181, essv6574160, essv6238934, essv6423962, essv6438677, essv6440616, essv6470402, essv5472083, essv6533697, essv5615128, essv5409671, essv5764177, essv5646046, essv6198267, essv6282661, essv5877742, essv5744400, essv5722860, essv6544686, essv6041078, essv6211595, essv6311321, essv5622987, essv5480810, essv5500322, essv5808401, essv6483439, essv5556439, essv5578110, essv6350358, essv6391823, essv6385433, essv5977531, essv6197923, essv6134516, essv6381873, essv6458784, essv5876027, essv6391296, essv6505550, essv6158122, essv6573979, essv6555561, essv6284816, essv5468946, essv5897973, essv6525373, essv5460310, essv6523601, essv6591321, essv6148229, essv5977831, essv6575389, essv5867903, essv6107197, essv5422475, essv6585025, essv6107386, essv6016886, essv5453180, essv5621715, essv5924506, essv6464756, essv5818386, essv5599728, essv6199469, essv5770690, essv5909031, essv5590346, essv6523864, essv6359883, essv6373286, essv6108836, essv6219426, essv6269214, essv6438123, essv5921078, essv5439625, essv5766259, essv6011092, essv5836121, essv5610110, essv5586703, essv5914571, essv5844250, essv5426009, essv5488075, essv6297112, essv5537260, essv5697909, essv5952069, essv6340570, essv6269243, essv6188399, essv5456196, essv5878119, essv6432376, essv6533914, essv5647131, essv6267260, essv6540948, essv6327476, essv6044247, essv6507333, essv6159189, essv6334861, essv6532230, essv6227779, essv6582273, essv6330196, essv5880571, essv6508690, essv6083325, essv5713664, essv5421569, essv5928396, essv5989672, essv5870923, essv5512588, essv6359461, essv5695454, essv6030012, essv6041321, essv5577457, essv5917930, essv5764529, essv6401993, essv5925796, essv5773871, essv5770221, essv6451904, essv5757703, essv6082328, essv6285087, essv5865638, essv6080889, essv6361810, essv6500374, essv6262483, essv5679044, essv6288755, essv6289319, essv6587022, essv5994062, essv5519421, essv5899414, essv5438008, essv5972706, essv5747180, essv6310599, essv5884124, essv5960778, essv5985166, essv6520303, essv6133527, essv6238044, essv6247064, essv6400930, essv5562075, essv5554930, essv6277969, essv5814647, essv5816422, essv5845465, essv6160396, essv5986300, essv6468678, essv6548256, essv5578362, essv6318656, essv6490918, essv5747423, essv6538926, essv6087173, essv5570468, essv5587782, essv5926824, essv6320870, essv6295754, essv6209194, essv6389004, essv5444871
SamplesHG00650, HG00542, NA19058, NA20529, HG00608, HG00142, NA18947, HG00671, NA19066, HG00242, NA18508, HG00559, NA18565, NA18999, HG00244, NA18504, NA12340, NA18530, NA18959, NA18616, HG00654, NA19920, NA18633, NA12399, NA18602, NA18988, NA18627, HG00271, NA18563, NA19379, NA18940, NA19315, NA18597, NA18558, NA18547, NA18618, NA18571, HG01365, HG00185, HG00537, NA19079, NA18949, NA18868, NA19372, NA19238, HG00705, NA18990, NA19239, HG01048, NA18985, NA19985, NA18539, NA19908, HG00443, NA18538, HG01171, NA19070, NA19056, HG00557, HG00245, NA20521, HG00657, HG00556, HG00275, NA18579, NA18534, NA18537, HG00284, NA18573, HG00651, HG00250, NA19084, NA18626, HG00690, HG00404, HG00531, HG00684, NA19099, NA19059, NA18555, NA19452, NA18963, HG00704, NA19395, NA18570, NA19625, NA19012, NA18974, NA18953, NA19375, HG00611, NA18632, HG00155, NA19390, HG00625, NA19712, NA18564, NA18628, NA19072, HG00580, NA12272, NA19010, HG01174, HG00473, NA19428, NA19083, NA18943, NA12763, HG00662, HG00418, NA18615, NA18501, HG00478, NA19223, HG00342, HG00267, NA18609, HG00310, NA18873, NA18983, HG00595, NA19430, NA18989, NA19312, NA18968, NA12890, NA18623, NA19065, NA18612, NA19074, NA19676, NA18620, HG01356, NA19055, HG00536, HG00231, NA18592, HG01079, NA18561, NA19704, NA18507, NA18603, NA18545, NA19819, NA19057, NA18596, HG00566, NA18606, NA19190, NA18526, HG00327, NA18967, NA19068, HG01250, NA19076, NA19005, NA18944, NA19201, NA18595, HG00702, HG00689, NA18635, NA18619, NA19916, HG00634, NA18942, NA19088, NA19138, NA19054, NA20336, HG00590, NA18611, HG00277, NA19383, NA18977, NA19917, NA19371, NA18560, NA19075, HG00422, HG01176, NA18986, NA19002, HG00427, NA19901, NA18975, NA20533, HG00530, NA19451, NA18638, HG00464, HG00260, HG00543, HG00313, NA18544, HG00560, NA18613, HG00629, NA19437, HG00596, NA19077, HG00428, HG00701, HG00475, NA19236, NA18516, NA19982, HG00584, HG00533, NA18637, NA20126, NA18910, NA18976, HG00619, HG00708, HG01390, NA18566, NA19114, NA19000, NA19449, NA19655, NA18856, NA12249, HG00613, HG00525, HG00321, NA19225, HG00141, NA18536, NA18576, NA18546, NA18608, NA19401, NA18535, NA19321, NA19108, NA18961, NA18543, NA18559, HG00565, HG00366, NA19435, NA18941, HG00278, NA19380, HG00607, NA19439, HG00125, HG00707, HG00672, NA19060, NA18987, HG00656, NA19713, HG00698, HG00343, HG00252, NA18984, HG00472, NA19004, NA19758, NA18511, NA18622
Known GenesTP63
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678134
Frequency
Sample Size1151
Observed Gain0
Observed Loss263
Observed Complex0
Frequencyn/a


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