A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661714



Internal ID2894801
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 Variantsessv6021849, essv6587447, essv5573557, essv5530345, essv5593306, essv5913409, essv6548713, essv6598121, essv5678026, essv6224575, essv6549583, essv5823905, essv5996843, essv6323578, essv6583815, essv6325117, essv6103756, essv6211982, essv6423123, essv5906322, essv6232857, essv5529113, essv5431626, essv6098936, essv5717141, essv5863013, essv6461546, essv5554435, essv6176458, essv5768845, essv6247843, essv6212829, essv6126456, essv6136443, essv6121179, essv5457254, essv6556072, essv5814825, essv5746395, essv5844380, essv5840289, essv6382724, essv6224252, essv6388935, essv6492717, essv6562316, essv5465696, essv5702723, essv5451958, essv6236994, essv5952348, essv5954228, essv6015588, essv5720931, essv6299651, essv5937094, essv6119795, essv6489900, essv6018545, essv5432964, essv6368872, essv6383879, essv6251982, essv5861583, essv5600098, essv5422654, essv5451579, essv5937435, essv5576653, essv5534591, essv5558248, essv5550768, essv6497845, essv6223627, essv5718477, essv5906540, essv6037458, essv5759501, essv5505644, essv5654402, essv5503464, essv5510336, essv6598089, essv5781370, essv6202489, essv6359698, essv6179184, essv6046828, essv6165866, essv5660749, essv5509906, essv6086493, essv5847119, essv6374848, essv5429266, essv6578630, essv5763650, essv5634545, essv5864806, essv6048382, essv5874135, essv6205953, essv6390119, essv5831653, essv5723247, essv6069909, essv5734897, essv5434960, essv6181035, essv6292696, essv6572945, essv6178126, essv5606458, essv5827317, essv5945182, essv6342841, essv6236215, essv6020595, essv6464951, essv5417849, essv5508395, essv6489988, essv5894350, essv6336375, essv6193258, essv6363607, essv5715038, essv6487711, essv5711803, essv6144351, essv6229542, essv6461833, essv6116864, essv5656331, essv6579629, essv6442006, essv6179781, essv5669110, essv6120012, essv5679995, essv6072133, essv6173175, essv5824380, essv6008344, essv5559299, essv5761724, essv6108551, essv6377807, essv5980453, essv6332187, essv6130513, essv5548432, essv6271264, essv6059711, essv6074871, essv5814251, essv6283302, essv6453397, essv6325363, essv6346886, essv6412118, essv6047005, essv6551219, essv5836575, essv6129929, essv5739544, essv6182616, essv6208973, essv5510485, essv6383033, essv6200814, essv5613334, essv5643818, essv6451069, essv5588894, essv5887328, essv5676315, essv6489962, essv5613237, essv6208843, essv5981848, essv6002548, essv6212083, essv6447906, essv6387718, essv6196530, essv5918603, essv6439111, essv5733206, essv6023149, essv6126098, essv5488959, essv5621924, essv6332820, essv6501140, essv6039554, essv5806009, essv5532002, essv5945676, essv6578263, essv6359500, essv5727950, essv6438982, essv6327140, essv5989521, essv5774776, essv5503047, essv5629988, essv5961880, essv5588765, essv5555104, essv6583499, essv6143587, essv6342938, essv5816981, essv5975777, essv5761894, essv6159358, essv5429085, essv5799191, essv5932846, essv6536841, essv5562765, essv5944124, essv5398609, essv5582889, essv5533811, essv5755422, essv6244638, essv6051772, essv6313317, essv6277392, essv6011164, essv6384062, essv5998189, essv6278817, essv5561106, essv6368918, essv5600873, essv6329919, essv6501352, essv6483508, essv6358575, essv6206248, essv6175335, essv5613597, essv5538596, essv5637492, essv6005772, essv5851644, essv6300857, essv6056219, essv5411490, essv5545953, essv6521429, essv6390817, essv5804440, essv5850595, essv6210972, essv6499340, essv6574591, essv5568287, essv5782391, essv5447085, essv5941324, essv6269849, essv6011935, essv6434570, essv6346238, essv5519271, essv6504381, essv6487752, essv5857192, essv5439341, essv6303890, essv6107384, essv6558799, essv5507627, essv5902153, essv6294761, essv5445481, essv5672535, essv6364917, essv6287808, essv5941235, essv5956460, essv5475697, essv6110109, essv6230059, essv6303397, essv5453172, essv6360768, essv6511686, essv5560659, essv5628151, essv6153608, essv5847564, essv5626514, essv6282776, essv6241557, essv6222560, essv6107238, essv6170333, essv6168910, essv5453000, essv5565808, essv6420763, essv6157257, essv6278475, essv6183554, essv5990436, essv6061385, essv6262168, essv6147656, essv6530445, essv6559116, essv6306491, essv5613203, essv5632363, essv5791597, essv5915330, essv5443061, essv6538347, essv6059383, essv6123101, essv6092447, essv6335716, essv5416619, essv5767855, essv5625283, essv6307320, essv6186179, essv6597660, essv5714286, essv5659474, essv6574455, essv6183735, essv6370244, essv6264798, essv5849607, essv6180596, essv5693002, essv5705420, essv5778107, essv5823876, essv6320863, essv6176527, essv6298245, essv6424022, essv6435212, essv6390223, essv6572000, essv5805230, essv5398964, essv5613576, essv6394152, essv5916566, essv5412492, essv6267363, essv5745089, essv5650865, essv5883248, essv5510660
SamplesHG01357, HG01441, NA19012, NA11881, NA19207, NA19248, NA12154, NA12489, HG00537, HG00252, HG01440, NA20787, NA19712, HG00257, NA19904, NA20527, HG01353, NA19819, NA12342, HG00328, NA20752, HG01173, NA11920, HG00112, HG00274, HG00186, NA18501, NA20796, NA20535, HG00160, NA11918, NA19469, NA19435, HG01079, HG01389, NA19319, NA20296, NA20759, HG01197, HG00657, NA19359, HG01051, HG01365, NA19334, HG00189, NA19453, HG01488, NA12828, NA18947, NA19449, HG00148, HG01350, HG00139, NA18489, NA18541, NA12058, HG00334, NA18963, NA19685, HG01101, HG01168, NA19257, NA19236, HG00737, HG00253, NA20322, NA18505, NA12287, NA20521, NA20803, NA19761, HG01171, HG00353, NA12414, HG01107, HG01550, HG00158, HG01148, HG00242, NA11919, NA12763, HG01384, NA19390, NA12004, NA19057, NA19917, NA20811, NA19675, HG00638, HG00259, NA18618, HG00096, NA07357, NA19471, NA19900, NA20504, HG01061, NA20530, HG00231, NA20783, HG00372, HG01183, HG01495, NA20801, NA19396, NA20754, HG01124, NA19083, NA12273, NA19397, NA12761, NA19429, NA19908, HG00149, NA19066, NA20541, HG00150, HG00125, HG00258, NA11831, NA19256, HG01113, HG01136, NA11894, NA19075, NA19835, NA20520, HG00264, NA11995, HG00174, NA19658, HG00243, HG00254, NA19679, HG00276, NA12830, NA12777, HG00357, NA19684, HG00133, NA20773, HG00114, HG01497, NA12006, HG00306, NA19725, HG00159, HG00267, NA19313, NA19395, NA07346, NA18620, HG01465, NA19172, NA19189, NA19759, NA19771, NA12892, NA19372, NA20291, NA19374, NA19703, HG00640, HG01066, NA19375, NA19393, NA20760, NA20348, NA12778, NA19373, NA19384, NA12348, NA18498, NA19716, NA20790, NA20795, NA18486, NA19102, NA19238, NA20753, NA18510, NA19002, HG00265, NA19901, HG00282, HG01069, HG01176, NA20814, NA20818, HG00116, NA19347, NA20774, HG01351, NA20815, HG00740, NA20542, NA20582, NA19720, NA18988, HG00153, HG01070, HG00246, NA12283, NA19074, HG01383, HG00377, NA18985, HG00236, NA19462, NA19777, NA19235, NA12890, HG00427, HG01137, NA19921, NA20537, NA19138, NA19376, HG01095, NA18909, NA20276, NA06984, NA18867, NA19394, NA12156, HG01112, NA19719, HG00118, HG00311, NA18577, NA19099, HG01390, NA12878, NA20507, NA20513, NA12003, HG00123, HG00281, NA11993, NA12399, HG01366, NA18924, NA20543, NA19916, HG01108, HG00367, NA19315, HG00566, HG01125, NA19130, HG00251, HG01177, HG00119, HG00320, HG01498, HG00275, HG01374, HG00473, HG00137, HG01102, HG01462, NA18908, NA19473, NA20524, HG00143, NA19758, HG00336, NA19448, NA20517, HG00272, HG00345, NA19468, HG00702, HG00271, NA19007, NA19661, NA20519, NA19456, HG00136, NA19065, HG00126, NA12775, NA19058, NA19466, HG01067, HG01354, HG00327, HG00323, NA20281, NA19137, NA12827, NA18964, NA19445, HG00152, HG01359, HG01518, NA12249, NA18861, NA19436, NA12750, NA20522, NA20278, NA20809, NA20503, NA20785, NA18561, NA20506, NA19404, HG01055, NA20516, NA18612, HG00731, HG00245, HG00736, NA20508, NA19060, HG00310, NA18511, NA06989, NA12340, NA20802, NA19670, NA12813, NA20808, HG01492, NA20529, HG00326, HG01491, HG00190, HG01182, NA19210, NA19834, HG01204, HG01461, HG00651, NA19678, NA19108, HG00146, NA19474, NA12341, NA12044, NA19467, HG01551, NA19654, HG00247, HG01521, HG00256, NA20770, HG00244, NA20532, HG00115, HG01254, HG00339, NA20761, NA19067, NA20585, NA19383, NA19982, NA20533, HG01140, HG01456, NA12282, NA20515
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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