A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661714



Internal ID9581133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91766504..91767776hg38UCSC Ensembl
chr1:92232061..92233333hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381273
hg191273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6461833, essv5849607, essv5447085, essv6223627, essv5702723, essv5429085, essv5422654, essv6307320, essv5755422, essv6211982, essv5996843, essv6574455, essv5600873, essv5621924, essv6046828, essv6390119, essv6370244, essv6247843, essv5975777, essv5550768, essv6120012, essv6157257, essv6489900, essv6394152, essv5774776, essv5693002, essv5981848, essv6336375, essv5874135, essv5932846, essv6313317, essv5613237, essv6173175, essv6499340, essv5998189, essv6267363, essv6212829, essv6176458, essv5613597, essv6442006, essv6574591, essv6329919, essv6262168, essv6110109, essv5937094, essv5836575, essv6439111, essv6298245, essv6181035, essv5439341, essv5672535, essv5560659, essv6269849, essv5593306, essv5451958, essv6521429, essv5989521, essv5600098, essv6236994, essv6271264, essv5831653, essv5717141, essv6059383, essv5915330, essv6278817, essv6059711, essv5432964, essv5679995, essv6119795, essv5823876, essv5745089, essv6278475, essv6037458, essv6332187, essv6208973, essv6136443, essv6323578, essv6179184, essv5660749, essv6342938, essv6579629, essv6383033, essv6108551, essv6327140, essv5954228, essv6556072, essv6126098, essv5906540, essv5851644, essv5763650, essv6303397, essv5637492, essv6048382, essv6530445, essv6292696, essv5720931, essv6489988, essv6021849, essv5416619, essv6002548, essv5678026, essv5606458, essv6435212, essv5782391, essv5582889, essv6047005, essv5824380, essv5733206, essv6572000, essv6390223, essv5805230, essv5711803, essv5576653, essv6170333, essv6388935, essv6241557, essv6294761, essv6501140, essv5588765, essv5850595, essv6232857, essv5625283, essv5650865, essv6200814, essv5902153, essv5768845, essv5508395, essv5906322, essv5767855, essv6342841, essv6359698, essv5715038, essv5562765, essv5894350, essv5554435, essv6551219, essv5532002, essv6123101, essv5918603, essv5533811, essv6548713, essv5952348, essv5534591, essv5510336, essv5857192, essv5804440, essv6583815, essv5417849, essv6511686, essv5565808, essv5431626, essv6383879, essv5411490, essv6382724, essv6363607, essv6129929, essv6103756, essv5475697, essv6086493, essv5956460, essv5941324, essv5412492, essv6387718, essv5799191, essv5676315, essv6423123, essv5555104, essv6346886, essv5558248, essv5434960, essv6572945, essv6598121, essv5510485, essv6056219, essv5714286, essv5816981, essv5861583, essv6176527, essv6107238, essv5510660, essv6487752, essv5840289, essv6074871, essv6230059, essv6107384, essv5723247, essv6583499, essv5669110, essv6222560, essv6116864, essv6536841, essv6186179, essv5503047, essv5445481, essv6023149, essv5863013, essv5488959, essv6489962, essv6264798, essv6558799, essv5465696, essv5814825, essv6451069, essv6578630, essv6126456, essv6159358, essv5844380, essv6144351, essv6020595, essv5507627, essv5761724, essv6359500, essv5629988, essv6210972, essv5705420, essv5451579, essv5545953, essv6420763, essv5778107, essv5548432, essv6061385, essv6368918, essv6483508, essv5530345, essv6549583, essv5656331, essv6447906, essv6143587, essv6538347, essv5734897, essv6346238, essv6005772, essv6039554, essv5827317, essv5398964, essv5628151, essv6598089, essv5429266, essv6300857, essv6424022, essv5443061, essv6202489, essv6438982, essv5761894, essv5561106, essv6377807, essv6179781, essv6306491, essv6183554, essv6325117, essv5718477, essv6384062, essv6147656, essv5937435, essv5529113, essv6165866, essv5453000, essv5613334, essv6011935, essv5739544, essv6051772, essv6578263, essv6178126, essv6224252, essv5945676, essv5659474, essv5634545, essv6374848, essv6562316, essv6130513, essv5746395, essv6282776, essv5887328, essv5559299, essv5457254, essv6360768, essv6072133, essv6236215, essv6193258, essv5916566, essv5847564, essv5823905, essv5453172, essv6224575, essv6299651, essv6587447, essv5654402, essv6229542, essv6277392, essv5503464, essv6461546, essv5945182, essv5944124, essv5814251, essv5538596, essv5980453, essv6412118, essv5913409, essv6390817, essv5990436, essv5883248, essv5806009, essv6492717, essv6303890, essv6175335, essv5632363, essv6283302, essv5961880, essv6487711, essv6244638, essv6434570, essv6015588, essv6504381, essv5847119, essv5791597, essv6335716, essv6121179, essv6018545, essv6205953, essv5759501, essv6092447, essv6180596, essv5519271, essv6098936, essv6358575, essv6196530, essv5505644, essv6453397, essv5568287, essv6011164, essv5727950, essv5509906, essv6008344, essv5588894, essv6206248, essv6368872, essv6182616, essv6320863, essv5626514, essv6597660, essv6251982, essv6069909, essv5781370, essv5573557, essv6183735, essv6168910, essv5941235, essv5613203, essv5398609, essv6364917, essv5643818, essv6497845, essv6464951, essv6325363, essv6153608, essv6559116, essv6287808, essv6501352, essv5613576, essv5864806, essv6332820, essv6212083, essv6208843
SamplesNA19394, HG00189, NA20761, HG01173, NA19058, NA20529, HG00143, NA19703, HG01462, NA18947, NA20508, NA19066, HG00242, NA18861, NA12273, NA20783, NA12414, NA11920, HG00257, HG01066, NA20752, NA20802, HG00244, NA19359, HG00153, NA12340, NA19684, HG00737, HG00115, HG01518, NA20517, HG01461, HG01051, NA18510, NA12750, NA12399, NA19067, NA18988, HG00271, NA12813, NA20814, NA07346, NA19373, HG01350, HG00272, NA19319, NA19315, HG01351, HG01177, NA19678, NA20774, HG01168, NA20795, HG01492, NA18618, NA11918, HG01365, HG00334, NA19904, NA19384, HG00537, HG00311, HG00243, NA20291, NA19130, HG00158, HG00281, HG00139, NA20759, HG01069, NA19720, NA20278, HG00148, NA12156, NA19372, NA19238, NA12044, NA19235, NA19207, NA19172, HG00160, HG00118, NA18985, HG00326, HG00323, NA18867, HG01550, HG00253, NA20515, NA19921, NA20753, HG01124, HG00137, NA12777, NA20535, NA19908, NA12489, HG00731, HG01171, HG00282, NA19670, HG00245, NA12878, NA20521, HG01095, HG00657, NA20760, HG01498, HG00275, NA20519, HG00740, NA19654, HG01102, NA11919, HG00651, NA19453, NA06989, HG01101, HG01497, NA19099, NA19761, HG00152, HG00146, NA18963, NA19469, NA12778, HG00246, NA19395, HG00126, HG01107, NA18541, NA19012, HG01148, NA19375, HG00258, HG00254, NA19390, HG00336, HG00265, NA19256, NA20276, NA19712, HG00353, NA20815, HG01551, NA20520, HG01357, NA20790, NA20530, NA20527, NA19835, HG00473, NA19679, HG01113, HG01137, HG00116, NA19083, NA20281, NA12763, HG00339, NA18501, HG00259, NA19716, NA19468, HG00267, NA19474, HG00310, NA19102, HG00112, NA19900, HG00377, HG00274, NA20503, HG01125, NA12890, NA12006, NA20585, NA12154, NA19065, NA18612, NA20754, NA19429, NA19074, NA18577, NA18620, HG00096, HG00114, HG01441, HG01521, NA20543, HG00231, NA19397, NA18924, NA19466, NA11995, HG01359, HG01079, NA18561, HG01389, HG01374, HG00306, NA20532, HG00640, HG00367, NA18486, HG01465, NA19819, NA19393, NA12004, NA19777, NA19057, HG01456, HG00566, NA12058, NA20808, HG00150, NA20507, NA07357, HG01140, NA12341, HG00327, NA20537, NA19374, NA19396, NA20796, HG01366, HG01070, HG00251, NA18489, NA19448, HG01488, HG00702, NA19916, NA12348, HG00736, NA12283, HG01354, NA19771, NA19313, NA12287, HG00247, NA19138, NA18498, NA20513, NA18964, NA20541, NA19404, NA12761, NA12282, HG01067, NA19383, NA06984, HG00236, HG01495, NA19917, NA19719, NA19137, NA19075, NA19471, HG01176, HG01440, NA19002, HG00427, NA20811, NA19901, NA19725, NA19189, HG00159, NA12828, NA19456, NA19445, NA20533, NA18908, HG00264, NA11993, NA20818, NA19007, NA11831, HG01353, HG00133, HG01183, HG01136, HG00149, NA19210, NA20787, NA20524, HG01384, HG00328, NA12342, NA12003, NA19462, NA19347, HG00190, NA20809, NA19236, NA19982, HG00320, NA20506, NA19658, NA20770, HG01390, NA19449, HG01197, NA11894, NA12249, HG01383, NA12892, HG01182, NA12827, NA19257, HG00276, NA20542, NA19675, HG01204, NA19436, NA20296, NA19685, NA20773, NA20522, NA20801, HG00119, NA18909, NA11881, NA19834, NA19108, NA12775, NA19473, HG00357, HG00136, NA19435, HG00638, NA20785, NA19334, NA20504, NA19467, NA20516, HG01108, NA20803, HG00256, HG00125, NA19759, NA19376, NA20348, NA19248, HG01491, NA20582, NA19060, HG01254, HG01055, HG00174, HG00123, NA12830, HG00186, HG00372, HG00252, NA19661, NA18505, NA19758, NA20322, HG00345, NA18511, HG01112, HG01061
Known GenesTGFBR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661714
Frequency
Sample Size1151
Observed Gain0
Observed Loss363
Observed Complex0
Frequencyn/a


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