A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678844



Internal ID9598263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:33203712..33204001hg38UCSC Ensembl
chr10:33492640..33492929hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6455015, essv6284668, essv6559791, essv6199051, essv6263831, essv5463780, essv6184019, essv6018598, essv6301121, essv5811704, essv6352280, essv5980245, essv5857761, essv5960686, essv6254573, essv6512318, essv6134956, essv5877744, essv5819739, essv5502771, essv6462148, essv5488721, essv6348334, essv6236643, essv5885897, essv5716084, essv6461571, essv6258732, essv5962343, essv5445378, essv6119779, essv6270328, essv5780516, essv6329755, essv5869502, essv5646354, essv6024403, essv5786690, essv6366299, essv5840875, essv5796117, essv5604299, essv6284200, essv6176454, essv6224385, essv6284497, essv5935449, essv5573615, essv6553299, essv6556393, essv5501589, essv6498523, essv6433428, essv6157091, essv5438998, essv5719033, essv5420105, essv5912255, essv5971284, essv5931409, essv5905750, essv6590059, essv5472622, essv6458977, essv6441754, essv6007540, essv5472626, essv6228545, essv5551738, essv5593873, essv6506014, essv6499469, essv5716337, essv6137428, essv6176107, essv6030682, essv6323626, essv5671988, essv5910835, essv5922698, essv5412040, essv6275309, essv6497222, essv5981746, essv6327651, essv6093339, essv6537774, essv5806727, essv5763089, essv5720779, essv6590865, essv6316951, essv6050921, essv5620293, essv6263937, essv5793055, essv5554994, essv5948014, essv5759137, essv6225385, essv5861281, essv6439988, essv5885736, essv5856958, essv5970070, essv6381791, essv5734464, essv6058062, essv5807447, essv5912032, essv5695938, essv6589588, essv5976035, essv6474411, essv5947702, essv6019382, essv6524026, essv5400154, essv5522892, essv6327789, essv5479791, essv5710254, essv6448823, essv6104310, essv5665960, essv6507336, essv5497969, essv6454970, essv6096861, essv6333367, essv6384724, essv5858310, essv5864367, essv5490261, essv6154654, essv5685739, essv5546594, essv6429753, essv6333393, essv5525525, essv6132350, essv6156968, essv6491397, essv6569352, essv5827697, essv5840867, essv5844458, essv6083786, essv5729847, essv6491437, essv5739063, essv5932699, essv6201520, essv5917339, essv6554467, essv6593020, essv6281687, essv6150573, essv6170304, essv6558903, essv5898316, essv5924882, essv5616438, essv6411958, essv6591016, essv6231612, essv5510976, essv6289345, essv6550630, essv6127424, essv6308450, essv6384556, essv6209605, essv6513546, essv5946791, essv6340046, essv6291778, essv5888158, essv6185771, essv5990541, essv5739634, essv6043463, essv5820604, essv6028039, essv5894399, essv6236862, essv6450310, essv6435784, essv6274664, essv5639121, essv6405384, essv6076947, essv6358446, essv5755621, essv6305459, essv5618694, essv6195345, essv5588567, essv6355056, essv6224707, essv6063595, essv5530084, essv6104097, essv5761704, essv6072514, essv5913930, essv5755518, essv5409645, essv5443691, essv5517056, essv6442873, essv5606338, essv6452254, essv6348121, essv5792044, essv5457119, essv5780392, essv5583228, essv5609614, essv5799819, essv5514849, essv5587670, essv5716815, essv6525448, essv5485680, essv5953998, essv5752347, essv6317714, essv6282973, essv5780183, essv5908868, essv6212454, essv6059589, essv6413900, essv6468970, essv6456674, essv6026969, essv6283094, essv5669258, essv6591984, essv5507329, essv5698021, essv6052616, essv5594075, essv5768518, essv6257645, essv6141398, essv5603298, essv6329320, essv6164992, essv5648616, essv5444868, essv6051741, essv5941271, essv6001637, essv6289778, essv5759714, essv5601942, essv5521888, essv6177962, essv6306091, essv6507147, essv6429327, essv6394701, essv5998296, essv6122281, essv5649327, essv5780231, essv5908557, essv5625834, essv5638474, essv5960364, essv5813209, essv6556930, essv6440089, essv5582750, essv5684391, essv5865518, essv6250567, essv6453137, essv6088625, essv6578273, essv6286736, essv5894876, essv5535241, essv5707432, essv5995605, essv5752126, essv6003252, essv6222486, essv5480628, essv5888352, essv5914771, essv6563428, essv5417325, essv5872893, essv5569530, essv6450607, essv5547318, essv5851087, essv6247759, essv5957480, essv6311790, essv5943382, essv5980712, essv5906248, essv6456346, essv6357824, essv5605525, essv5507280, essv6347864, essv5747199, essv5415929, essv5989957, essv6588611
SamplesHG00613, HG01441, NA11881, NA18621, HG00537, HG00257, NA18595, NA18616, HG00182, NA18951, HG00619, NA18534, NA18530, HG00418, HG01519, NA19081, NA19819, HG00551, NA12342, HG00328, NA20752, HG00705, HG00437, HG00500, HG01083, HG00274, HG00464, NA19093, HG00131, NA18526, NA11918, NA18603, HG00463, HG00614, NA18953, HG01488, NA12828, HG00428, HG00475, NA18947, HG00542, HG00326, HG01491, NA18573, NA18608, NA20786, NA19782, HG01350, HG00139, NA18546, HG00701, HG00683, HG00698, NA20588, HG01188, HG00187, HG00404, HG01461, NA19004, HG01101, NA20798, HG00699, NA19780, NA20322, NA18557, NA18943, NA18950, NA18626, HG00479, NA18596, NA18949, NA18868, NA19654, HG01133, HG00256, NA18632, HG00244, NA19077, HG00543, NA18559, NA19726, NA19914, HG00158, HG00250, HG01140, NA19054, NA18627, NA19076, HG00472, HG00421, NA12004, NA18566, HG00240, HG00337, HG01378, NA11994, NA18635, NA18536, NA19675, HG00140, NA18576, NA18622, NA18960, HG00259, NA07357, NA18623, NA20504, NA19722, HG00610, HG00231, NA18990, HG00692, HG01183, NA20801, HG01047, HG00689, NA18636, NA19396, HG01124, NA18592, NA19088, HG00628, NA19397, NA19066, HG00533, NA18609, HG00419, NA18547, HG00258, NA11894, NA12400, NA18637, NA18973, HG00634, NA18593, NA18982, HG00254, NA19663, HG00403, NA12830, HG00357, NA18634, HG00584, HG00662, NA19728, NA20773, HG00114, NA12751, NA19676, NA20769, HG00436, NA19247, HG00620, HG01097, NA07346, NA12716, NA18537, NA18620, NA12892, NA18633, HG01191, NA18572, NA19703, HG01066, NA12778, NA19384, HG00325, HG00629, NA19716, NA20795, NA18986, NA18522, NA20753, NA19005, NA19657, NA19002, HG01073, NA18558, NA18977, NA18941, HG00501, HG00672, HG00282, HG00232, HG01069, NA18504, HG00478, NA18487, NA18564, NA18961, HG00116, NA19347, HG01351, NA19909, HG00740, NA18613, NA20797, HG00513, HG00524, NA20542, NA20582, NA19720, HG00153, HG00512, NA20766, NA18562, HG01060, HG01383, NA18579, NA18985, NA19789, HG00589, NA18945, NA18606, NA19777, NA18543, NA12891, NA18987, NA18582, NA18999, HG00427, HG01137, NA18597, NA19921, HG00590, NA19729, HG01095, NA18983, HG00443, NA18599, HG00611, HG01334, HG00650, NA18565, HG00663, NA18631, NA18560, NA18989, HG00580, NA18544, HG00448, NA18602, HG00654, HG01390, NA12878, NA18548, NA19064, HG00285, NA18944, NA11993, HG00656, NA18499, NA18571, HG00708, NA19070, NA12045, HG00693, NA18611, HG01125, HG00320, HG00275, HG00690, NA18532, NA18549, NA18574, HG00442, HG01374, HG00473, NA19350, HG00137, HG01102, HG01462, NA19079, HG00684, NA18615, HG00336, HG00476, HG00671, NA19087, HG00345, HG00702, HG00704, NA18555, HG00271, HG00278, NA19007, NA07000, HG00531, HG01067, HG00361, HG00313, NA12043, NA19625, HG00734, HG00536, HG00607, NA12750, NA20522, NA20503, HG00344, HG01075, NA18561, NA20516, NA18612, HG00731, HG00596, NA18550, NA18570, NA19003, NA19072, HG00261, NA19430, NA19670, NA19010, HG00375
Known GenesNRP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678844
Frequency
Sample Size1151
Observed Gain0
Observed Loss315
Observed Complex0
Frequencyn/a


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