A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670713



Internal ID9936818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4065618..4068024hg38UCSC Ensembl
Outerchr19:4065247..4068594hg38UCSC Ensembl
Innerchr19:4065616..4068022hg19UCSC Ensembl
Outerchr19:4065245..4068592hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6113666, essv6271833, essv6261507, essv5861291, essv6160400, essv5539527, essv6545645, essv6051608, essv5766513, essv6573443, essv6222473, essv6264933, essv5908678, essv6522498, essv6360448, essv6251589, essv6442430, essv5561353, essv6098836, essv5691747, essv6546313, essv5750707, essv5887529, essv5587391, essv5535226, essv6271835, essv5539073, essv6151393, essv6073140, essv6458476, essv6050811, essv5796606, essv6106976, essv6396858, essv6334492, essv6502474, essv5914401, essv6486616, essv6290493, essv5797140, essv6321451, essv6491916, essv5624405, essv5548254, essv6496142, essv5902933, essv5692602, essv6370981, essv5758527, essv5742922, essv6191491, essv5784610, essv6355142, essv6055138, essv5755386, essv6197997, essv6449665, essv5440037, essv6150706, essv6009751, essv5716133, essv6589703, essv6025680, essv5942724, essv5951876, essv6411952, essv5415072, essv6005601, essv6310986, essv6286112, essv5643765, essv5817102, essv5791097, essv6482260, essv5772542, essv5983255, essv6150546, essv5764545, essv5475909, essv6058612, essv6193046, essv5593879, essv6128135, essv5887347, essv5782807, essv5605209, essv6378484, essv6058191, essv6538903, essv5832445, essv5980256, essv5988174, essv6373891, essv6327762, essv6332116, essv6114189, essv6141994, essv6157430, essv6439931, essv5459690, essv5489475, essv5415700, essv6585377, essv6414379, essv6582164, essv6196944, essv5662950, essv5872907, essv6089358, essv6562808, essv5586917, essv5743672, essv5659233, essv5939440, essv6189804, essv5583379, essv6423848, essv5629290, essv5667594, essv6418072, essv5834851, essv6088447, essv6330297, essv5958890, essv5402347, essv6073209, essv6180761, essv6219673, essv5699118, essv6162689, essv6099810, essv6582431, essv6460535, essv6409895, essv5991925, essv6278699, essv5806190, essv5604326, essv5581964, essv6304496, essv5607620, essv5642022, essv5511288, essv5785786, essv5510809, essv6005250, essv5792459, essv5883682, essv5890759, essv5919806, essv5423954, essv6338535, essv6326548, essv5445458, essv6299349, essv5872294, essv5665383, essv5405227, essv6098929, essv5427080, essv5567412, essv6331945, essv5628760, essv6196739, essv6029722, essv5508934, essv6508598, essv5527138, essv5819725, essv5655073, essv6274274, essv6286192, essv5940909, essv5658386, essv5531467, essv6396001, essv6504793, essv5683059, essv6003492, essv6147853, essv5889832, essv6540122, essv6449458, essv5551041, essv6554067, essv5458205, essv6374024, essv5397014, essv5644100, essv5554637, essv6388498, essv6123310, essv5804164, essv6514943, essv5955167, essv5735362, essv6303382, essv5807596, essv6489963, essv5519965, essv5992038, essv5535614, essv6320525, essv6569331, essv5649835, essv6016323, essv6036874, essv5980969, essv5527038, essv5909249, essv5924012, essv5589794, essv6451933, essv5819141, essv5503778, essv6558165, essv6292492, essv6215878, essv5926024, essv5697118, essv6269004, essv6562027, essv5694496, essv6387761, essv6587735, essv6393436, essv6177699, essv6388722, essv5878533, essv5453634, essv6026239, essv5406062, essv5757296, essv6253478, essv6049143, essv6564277, essv5771809, essv5713564, essv5836295, essv5801256, essv5429808, essv6007421, essv5703980, essv6236401, essv5764151, essv5734730, essv5503628, essv6003871, essv6587357, essv6473745, essv6154093, essv5579428, essv5819243, essv6146892, essv6385987, essv5738529, essv6395640, essv5723819, essv5614831, essv5440659, essv6436131, essv6202849, essv6096332, essv5925795, essv5910658, essv6083350, essv6455205, essv6476046, essv5915546, essv6382899, essv6326122, essv5727675, essv5993916, essv5747393, essv5898545, essv5752951, essv5865619, essv5710125, essv6306664, essv6438206, essv5945089, essv6490724, essv6479272, essv5795068
SamplesHG00189, HG01173, HG00143, HG01462, NA19664, HG00242, HG00257, HG01066, HG00315, HG00151, HG00233, HG00244, HG00181, NA19684, HG00737, HG00115, HG01461, HG01051, HG00261, HG00337, HG00271, HG00641, HG00138, HG01350, HG00272, HG00122, HG01351, NA19678, HG01167, HG01168, HG01492, HG01083, HG01365, HG00334, HG00185, HG00311, HG00243, HG00158, HG00281, HG00139, HG01069, NA19720, HG01080, HG00335, HG00156, HG00325, HG00232, NA19722, HG00160, HG00118, HG01198, HG01048, HG00326, HG00323, HG01550, HG00253, NA19789, HG00137, HG00154, HG00731, HG00268, HG00266, HG01171, HG00282, HG00245, HG00732, HG01095, HG00368, NA19717, NA19663, HG00344, HG01498, HG00263, HG00275, HG01149, HG00239, HG00740, HG01047, NA19654, HG01102, HG00324, HG00284, HG00250, HG00331, NA19750, HG01101, HG00140, HG01334, NA19761, HG00146, NA19682, HG00246, HG00126, HG01107, HG01075, HG01148, HG00258, NA19652, HG00155, HG00254, HG00336, HG00265, NA19747, HG00353, HG01551, HG00734, HG01357, HG01174, HG01375, HG00237, NA19679, HG00116, NA19783, HG01489, HG01342, HG00339, NA19785, HG00259, NA19779, HG00342, NA19716, HG00267, HG00310, HG00112, NA19770, HG00280, NA19780, HG00377, HG00274, HG01125, HG00171, HG01437, HG00553, NA19676, HG00096, HG01060, HG00114, HG01441, NA19648, HG01098, HG01356, HG00231, HG00249, HG00361, HG01359, HG01052, HG00187, HG01079, HG00100, HG01188, HG01389, HG01374, HG00306, HG00367, HG00318, HG01465, HG00103, NA19777, HG01456, HG00179, HG00177, HG00150, HG01140, HG00327, HG01250, NA19746, HG00127, NA19660, HG01366, HG01070, HG00251, NA19762, NA19728, HG01488, NA19723, HG00330, HG00736, HG00346, HG01354, NA19771, HG00247, HG00369, HG00270, NA19782, NA19681, HG01134, HG00277, HG01455, NA19651, HG01067, HG00120, HG00106, HG01170, HG00236, HG00262, NA19719, HG01072, HG01176, HG01440, HG00309, NA19725, HG00637, HG00338, HG00159, HG00178, HG00264, HG00108, HG00260, HG01353, HG00313, HG00133, HG01183, HG01136, HG00188, NA19657, HG01360, HG00183, HG01187, HG01384, HG00328, HG00190, HG00320, NA19788, NA19776, HG01390, HG01073, HG00273, NA19655, HG00373, HG01197, HG01383, HG01182, HG00117, HG00321, HG00157, HG00276, NA19756, HG00141, NA19675, HG01204, NA19685, HG00124, HG00119, HG01190, HG00285, NA19749, HG00366, HG00375, HG00357, NA19732, HG00136, HG00278, HG01494, HG00319, HG01108, HG00256, HG00269, HG00125, HG00111, HG01491, HG00312, HG00329, HG01254, HG01055, HG00174, HG00123, HG00186, HG00131, NA19726, HG00343, HG01251, HG00372, HG00252, NA19661, HG01377, HG01378, NA19755, HG01082, HG00345, HG01112, HG01097, HG01191, HG00180, HG01061
Known GenesZBTB7A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670713
Frequency
Sample Size1151
Observed Gain0
Observed Loss284
Observed Complex0
Frequencyn/a


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