A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671721



Internal ID9937826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6012362..6012506hg38UCSC Ensembl
Outerchr1:6012135..6012732hg38UCSC Ensembl
Innerchr1:6072566..6072422hg19UCSC Ensembl
Outerchr1:6072195..6072792hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5632013, essv6129056, essv5909976, essv6073435, essv6210340, essv5669584, essv5788028, essv5837146, essv5928633, essv5871453, essv6529368, essv5691431, essv5978133, essv6282855, essv5460614, essv6113253, essv5474868, essv6282381, essv6138404, essv6168202, essv6464469, essv5752732, essv6540799, essv6594356, essv6502693, essv5489757, essv6376855, essv6248870, essv6008020, essv5665100, essv6094817, essv6142865, essv5843395, essv5707787, essv6261806, essv6146458, essv5946793, essv6121818, essv5645205, essv5512966, essv6088037, essv6548910, essv5413546, essv5864460, essv6060604, essv5402443, essv6541060, essv5459906, essv6165747, essv5842204, essv5396217, essv5679535, essv5475755, essv5673767, essv6269635, essv5454081, essv6567015, essv5611477, essv5558169, essv6491505, essv6304897, essv6187079, essv6345185, essv5740671, essv6376345, essv5764384, essv5613898, essv5424572, essv6020546, essv6128759, essv5587867, essv6397638, essv6556052, essv5767011, essv5881206, essv6068361, essv6164111, essv6141669, essv5907730, essv6371370, essv6490716, essv5932588, essv6297003, essv6585620, essv5705359, essv6501200, essv6255955, essv5453827, essv6040350, essv6139787, essv5467304, essv6465287, essv6080909, essv5714321, essv6126277, essv6493493, essv5983105, essv6372612, essv5621908, essv6580197, essv5889228, essv5965967, essv5788966, essv5415000, essv6195668, essv5552528, essv6297659, essv6119926, essv5753506, essv5995311, essv6055531, essv5428863, essv6498118, essv5425976, essv5545770, essv6118327, essv5636110, essv5445107, essv6492760, essv5883448, essv6397243, essv6114052, essv6192880, essv6103095, essv5730880, essv5918927, essv5884490, essv6532235, essv5406403, essv6505577, essv6506890, essv5509769, essv5724721, essv6427608, essv6382629, essv5617025, essv6508076, essv6480699, essv6229880, essv5569094, essv6020623, essv6349389, essv6442096, essv5637574, essv6062214, essv5416587, essv6586272, essv6265889, essv5971083, essv5880362, essv6447871, essv5655454, essv5605963, essv5469579, essv6361399, essv5474452, essv6216628, essv5407886, essv6573525, essv6551773, essv5742080, essv6448961, essv6261835, essv5674310, essv5575680, essv5757120, essv6336381, essv6165749, essv5714136, essv6112224, essv6298507, essv5836894, essv6204063, essv5943253, essv6452048, essv5998533, essv6399264, essv6437441, essv5746389, essv6513052, essv6334902, essv5633336, essv6514803, essv5657029, essv6057781, essv5616878, essv6200679, essv6061149, essv6553754, essv6103012, essv6429959, essv6259723, essv6429236, essv5996087, essv6086953, essv6157504, essv6148521, essv6107623, essv6380438, essv5941011, essv5845242, essv5415051, essv5909974, essv5800765, essv5930850, essv6433245, essv6139989, essv6482164, essv6206244, essv5402741, essv6588591, essv5497657, essv6592445, essv5997402, essv6497354, essv6217674, essv5617548, essv6377173, essv5829542, essv6155134, essv6072530, essv6473009, essv5432446, essv5407413, essv6223863, essv5506435, essv6072292, essv5531345, essv6169655, essv6416025, essv6148472, essv5513983, essv6393423, essv6106545, essv5845916, essv6081217, essv5677246, essv5958284, essv6223880, essv6439716, essv5774618, essv6409198, essv5645214, essv6227383
SamplesNA19394, HG00650, HG01173, HG00608, NA18621, HG00142, NA19664, HG00671, HG00257, HG01066, HG00315, NA19684, NA18530, HG01518, HG00449, HG00654, HG01051, NA20356, NA19920, HG00261, NA18602, HG00693, HG00337, HG00271, HG00663, HG00138, HG01350, NA19379, HG00589, HG00272, HG01351, NA19678, NA19457, HG01083, HG01365, HG00334, HG00537, HG00512, HG00281, HG00139, NA19720, HG01080, HG00335, HG00325, HG00232, HG00534, NA18557, HG01048, HG00326, HG00323, HG00253, NA19789, HG00137, HG00154, HG00443, HG01171, HG00282, HG00557, HG00657, NA19717, NA19663, HG00583, HG00344, NA18534, HG00692, HG00740, NA19654, HG01102, HG00324, HG00284, HG00651, HG00250, HG00690, HG00479, HG00684, NA19750, HG00140, HG01334, NA19452, HG00704, NA19682, HG00463, HG00246, NA19729, NA18632, NA19652, HG00254, NA19712, HG00580, HG01174, HG00473, HG00237, NA19679, NA19428, NA19324, HG01113, HG00662, HG00418, HG00620, HG00339, HG00614, HG00513, NA19785, NA19223, NA19779, HG00342, NA19716, NA18636, NA18609, HG00310, NA19770, HG00280, NA19780, HG00274, NA19463, NA18623, NA12154, HG01437, HG00581, NA19676, NA18620, HG01060, NA19648, HG00249, HG01359, HG01052, HG01079, HG01188, HG00318, HG00699, NA18606, NA19190, HG00327, NA19746, NA19660, HG01366, HG01070, HG00251, HG00501, NA19762, NA19728, HG01488, HG00702, HG00689, NA19723, HG00330, NA19197, HG00346, HG01354, NA19782, NA19681, HG00590, NA19404, HG00277, NA19651, HG01067, NA19383, HG00683, HG01170, HG00236, NA19719, HG01072, NA19731, NA19385, HG00309, HG00427, NA19725, HG00338, NA18638, HG00464, HG00108, HG00260, NA11831, HG01353, HG00543, HG00313, NA18613, NA19657, HG00328, HG00428, HG00701, HG00436, HG00320, HG00584, HG00533, HG00500, NA19788, NA20126, HG00619, NA19776, HG00708, HG01390, HG01073, HG00273, NA19774, NA19655, NA12249, HG01383, HG00613, HG00525, HG00276, NA19756, NA19675, NA19436, NA20296, NA19685, NA19401, HG00124, HG00285, NA18543, NA18559, NA19749, HG00375, NA19732, HG00136, HG00278, NA19773, HG00607, HG00319, HG01108, HG00256, HG00125, NA19818, NA19759, NA19376, HG00707, HG00672, HG00111, HG01055, HG00123, HG00698, HG00131, NA19726, HG00343, HG00252, NA19661, HG01377, NA19755, HG01082, NA19758, NA20322, HG00345, NA18549, HG00437
Known GenesKCNAB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671721
Frequency
Sample Size1151
Observed Gain0
Observed Loss244
Observed Complex0
Frequencyn/a


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