A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757940



Internal ID9633399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68304361..69548454hg38UCSC Ensembl
Innerchr4:69170079..70414172hg19UCSC Ensembl
Innerchr4:68852674..70448761hg18UCSC Ensembl
Innerchr4:68998845..70594932hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381244094
hg191244094
hg181596088
hg171596088
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759258
Supporting Variantsessv20951, essv8644, essv23658, essv20312, essv13627, essv20885, essv18602, essv14373, essv5455, essv6574, essv19227, essv22915, essv21406, essv20175, essv6281, essv15633, essv911, essv21459, essv14071, essv9921, essv11115, essv16010, essv9682, essv18276, essv15671, essv23425, essv2214, essv4666, essv16328, essv6010, essv20411, essv4404, essv18384, essv18610, essv23183, essv15826, essv15552, essv10906, essv2329, essv21867, essv19638, essv9823, essv5559, essv9206, essv17322, essv16886, essv16716, essv15328, essv2488, essv8212, essv24819, essv22423, essv24519, essv20607, essv10767, essv18388, essv1998, essv3533, essv21392, essv17600, essv13079, essv2596, essv22814, essv9996, essv4703, essv21978, essv2496, essv17480, essv17246, essv21793, essv15553, essv5135, essv20603, essv4045, essv21052, essv19453, essv21531, essv11458, essv23611, essv3754, essv13021, essv20219, essv4266, essv5167, essv18119, essv13722, essv4966, essv11982, essv6912, essv23177, essv8795, essv9407, essv16139, essv4123, essv701, essv9099, essv312, essv22779, essv17542, essv1179, essv9339, essv22109, essv6590, essv3891, essv13887, essv5367, essv15018, essv4006, essv23689, essv9747, essv1748, essv6116, essv23797, essv23247, essv5025, essv11841, essv10879, essv23354, essv22625, essv22031, essv14277, essv17704, essv21299, essv1233, essv8098, essv24583, essv14973, essv339, essv20198, essv23771, essv18699, essv24047, essv11259, essv3800, essv7347, essv22206, essv22141, essv17646, essv1484, essv5912, essv2232, essv18862, essv16163, essv2476, essv17448, essv24575, essv9354, essv19164, essv12637, essv20108, essv3359, essv10998, essv24656, essv19019, essv14167, essv9787, essv22967, essv23088, essv22097, essv8962, essv24771, essv24513, essv17897, essv24939, essv3480, essv4742, essv21124, essv8437, essv8931, essv21185, essv12492, essv18096, essv18445, essv12335, essv61, essv19634, essv12720, essv7220, essv16503, essv5928, essv8867, essv21232, essv6965, essv7863, essv22527, essv23338, essv10249, essv23402, essv16433, essv1451, essv10407, essv22478, essv19092, essv23524, essv19084, essv13440, essv18114, essv4908, essv19217, essv11663, essv4387, essv4161, essv12858, essv7430, essv23481, essv11439, essv12414, essv23979, essv10173, essv23066, essv13201, essv25003, essv21737, essv12213, essv15492, essv15349, essv4591, essv23902, essv22744, essv22549, essv24123, essv21278, essv24373, essv14736, essv10522, essv6315, essv8613, essv19790, essv22187, essv7571, essv19954, essv19752, essv21562, essv16779, essv17788, essv24918, essv23889, essv19577, essv14766, essv20804, essv18200, essv14872, essv1040, essv24892, essv17099, essv9617, essv10438, essv6984, essv11917, essv21825, essv15281, essv15412, essv11544, essv15077, essv22363, essv22836, essv17458, essv14422, essv23144, essv20305, essv11502, essv13051, essv16733, essv10631, essv20007, essv23836, essv6363, essv18759, essv22463, essv22467, essv10521, essv288, essv3416, essv217, essv14326, essv6392, essv20800, essv24790, essv22638, essv23545, essv12334, essv15783, essv18426, essv19557, essv17707, essv1211, essv1638, essv16457, essv24726, essv17178, essv24434, essv14614, essv18341, essv8738, essv7099, essv8084, essv11769, essv4583, essv12400, essv6744, essv2817, essv11284, essv9104, essv8292, essv17315, essv2669, essv23479, essv16626, essv22978, essv15062, essv14392, essv21145, essv17018, essv1378, essv23585, essv15426, essv5200, essv3210, essv24258, essv5162, essv20093, essv5130, essv24300, essv10046, essv11971, essv17634, essv11803, essv4185, essv17028, essv14564, essv24978, essv17666, essv13736, essv3092, essv18347, essv7763, essv19001, essv10325, essv9628, essv8355
SamplesNA18502, NA12717, NA18621, NA19204, NA18862, NA18861, NA18508, NA18524, NA18855, NA18999, NA12751, NA12801, NA18504, NA12146, NA12750, NA18969, NA12813, NA18563, NA19127, NA19192, NA19171, NA18940, NA10835, NA10846, NA18995, NA10854, NA12802, NA18558, NA18547, NA18960, NA07048, NA18582, NA18571, NA12762, NA19130, NA18949, NA12156, NA19238, NA12044, NA11994, NA19207, NA19172, NA19128, NA18966, NA18990, NA19239, NA10839, NA18951, NA18605, NA12760, NA12752, NA19120, NA07022, NA19194, NA18871, NA19103, NA18572, NA18948, NA12234, NA19208, NA19202, NA18537, NA18573, NA19142, NA11840, NA18912, NA19154, NA18857, NA18532, NA12145, NA19099, NA12707, NA18555, NA07345, NA12144, NA18523, NA19132, NA10856, NA18570, NA18858, NA18974, NA12043, NA19003, NA18632, NA06991, NA18517, NA18863, NA18564, NA12057, NA19140, NA18913, NA12873, NA18943, NA07348, NA12763, NA18501, NA06994, NA19223, NA19211, NA19093, NA18636, NA18609, NA19102, NA12875, NA19116, NA18872, NA19129, NA12006, NA18623, NA12154, NA18612, NA18577, NA11832, NA18620, NA18997, NA19141, NA19222, NA11830, NA19203, NA11995, NA11829, NA12814, NA18980, NA12236, NA18561, NA18507, NA19145, NA18603, NA19092, NA18545, NA07029, NA12004, NA12248, NA12865, NA10857, NA18870, NA18526, NA12155, NA07357, NA18967, NA19005, NA18944, NA18550, NA12812, NA19201, NA19119, NA18635, NA18860, NA12891, NA19131, NA18942, NA11992, NA19138, NA06993, NA18611, NA12761, NA12005, NA18970, NA07019, NA19137, NA12815, NA19159, NA10855, NA19209, NA18975, NA19200, NA11993, NA19007, NA11831, NA10847, NA19210, NA12753, NA12003, NA10863, NA10831, NA19152, NA12872, NA18859, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18503, NA11839, NA10838, NA19221, NA19000, NA10830, NA18856, NA12249, NA12239, NA18853, NA19101, NA18945, NA18576, NA19094, NA18978, NA18914, NA11882, NA19206, NA18542, NA12716, NA11881, NA18961, NA12864, NA10859, NA19240, NA19100, NA19144, NA18992, NA10861, NA19193, NA12874, NA07055, NA18594, NA19143, NA12740, NA18971, NA19173, NA18987, NA18994, NA10860, NA18521, NA18500, NA18506, NA18854, NA18852, NA07056, NA18505, NA19139, NA07000, NA18522, NA07034, NA18622, NA19153, NA18562, NA18965
Known GenesTMPRSS11E, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, YTHDC1
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2757940
Frequency
Sample Size270
Observed Gain239
Observed Loss3
Observed Complex0
Frequencyn/a


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