A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758457



Internal ID9633916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46006548..47199967hg38UCSC Ensembl
Innerchr17:44083914..45277333hg19UCSC Ensembl
Innerchr17:41439751..42632332hg18UCSC Ensembl
Innerchr17:41439751..42632332hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381193420
hg191193420
hg181192582
hg171192582
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758692
Supporting Variantsessv10211, essv22889, essv13428, essv15286, essv13666, essv17016, essv22579, essv3874, essv21787, essv7023, essv3778, essv18362, essv24140, essv23610, essv17744, essv16512, essv6305, essv2900, essv4783, essv17790, essv17735, essv15300, essv23130, essv20310, essv22848, essv21548, essv1588, essv18754, essv16777, essv23015, essv5035, essv19081, essv4602, essv1445, essv7423, essv3393, essv22199, essv12219, essv2487, essv23432, essv24275, essv17523, essv9070, essv832, essv8847, essv16659, essv18657, essv2326, essv7419, essv12481, essv14444, essv17616, essv22752, essv698, essv14554, essv20796, essv160, essv23871, essv22976, essv18963, essv1485, essv5571, essv17252, essv7089, essv3126, essv19168, essv23059, essv24999, essv22592, essv14361, essv23530, essv21070, essv5253, essv20200, essv7316, essv19417, essv22653, essv1961, essv25002, essv3040, essv6288, essv2791, essv369, essv6751, essv16210, essv2904, essv22331, essv22138, essv20107, essv21683, essv24385, essv20070, essv24067, essv24372, essv14883, essv20377, essv5364, essv18217, essv2293, essv13158, essv18443, essv21004, essv5147, essv657, essv11849, essv21425, essv21152, essv4473, essv20304, essv786, essv23854, essv6889, essv19700, essv20135, essv8283, essv3175, essv9623, essv9200, essv22232, essv17080, essv4976, essv4649, essv21844, essv21553, essv5800, essv21409, essv15534, essv21305, essv10032, essv20641, essv3207, essv15038, essv24756, essv5917, essv22094, essv11746, essv467, essv18834, essv7131, essv6822, essv12815, essv10292, essv14792, essv3372, essv5446, essv23781, essv12640, essv12996, essv2577, essv24517, essv23462, essv19213, essv1239, essv20588, essv19620, essv18224, essv20905, essv14375, essv24864, essv9926, essv4699, essv364, essv113, essv5488, essv19903, essv7304, essv21046, essv20656, essv14756, essv23444, essv18743, essv22451, essv4236, essv11494, essv442, essv23221, essv4135, essv1107, essv23995, essv6328, essv11988, essv18120, essv2540, essv19499, essv6673, essv22410, essv3980, essv19772, essv1609, essv7711, essv24651, essv11726, essv13637, essv878, essv2664, essv21216, essv6391, essv22396, essv7601, essv4867, essv5731, essv12410, essv24917, essv16273, essv22132, essv13541, essv553, essv3694, essv5098, essv23187, essv22514, essv9716, essv18269, essv255, essv1821, essv17422, essv22301, essv18400, essv12183, essv23586, essv11454, essv4852, essv21308, essv3084, essv21293, essv10744, essv3554, essv5379, essv24593, essv23665, essv10553, essv2074, essv10426, essv18071, essv9350, essv7755, essv15581, essv16144, essv17673, essv22000, essv31
SamplesNA18998, NA19141, NA12717, NA19222, NA11830, NA18947, NA11995, NA11829, NA18862, NA18592, NA18508, NA12814, NA18524, NA18980, NA12236, NA18561, NA18507, NA19145, NA18999, NA18603, NA12751, NA18545, NA07029, NA12004, NA12801, NA18504, NA12248, NA12146, NA18959, NA12865, NA10857, NA18633, NA12155, NA07357, NA18969, NA12813, NA18967, NA18563, NA19127, NA19192, NA18944, NA18940, NA18550, NA12812, NA19201, NA10835, NA10846, NA18995, NA10854, NA12802, NA19119, NA12891, NA18942, NA11992, NA07048, NA12762, NA18964, NA06993, NA18949, NA12761, NA12005, NA18970, NA07019, NA12156, NA19137, NA19238, NA12044, NA11994, NA19207, NA19172, NA19128, NA18966, NA12815, NA19159, NA18990, NA10855, NA10839, NA18975, NA18973, NA11993, NA11831, NA10847, NA18605, NA19210, NA12760, NA12752, NA19120, NA07022, NA19194, NA12753, NA10863, NA10831, NA19152, NA12878, NA12872, NA19161, NA18956, NA18859, NA18991, NA18529, NA18637, NA18579, NA19103, NA18572, NA18976, NA18948, NA18503, NA11839, NA10838, NA18981, NA12234, NA19221, NA19202, NA18537, NA18566, NA19142, NA19000, NA11840, NA10830, NA12249, NA12892, NA19154, NA18857, NA12239, NA18853, NA12264, NA12145, NA19099, NA12707, NA19101, NA18555, NA07345, NA12144, NA06985, NA18523, NA19160, NA19132, NA10856, NA18570, NA18593, NA18945, NA19012, NA18974, NA18576, NA12043, NA18608, NA18953, NA19094, NA19003, NA18632, NA11882, NA18542, NA06991, NA12716, NA11881, NA18961, NA18952, NA18517, NA12864, NA18540, NA18564, NA12057, NA10859, NA18913, NA19240, NA19100, NA12873, NA19144, NA10861, NA12874, NA07348, NA12763, NA07055, NA18594, NA12740, NA06994, NA18971, NA19173, NA18987, NA18994, NA10860, NA18636, NA18500, NA18609, NA18506, NA19102, NA12875, NA18872, NA18552, NA07056, NA18505, NA19129, NA18968, NA18624, NA12006, NA18623, NA07000, NA18522, NA12154, NA07034, NA18612, NA18622, NA18562, NA18965, NA18577, NA11832, NA18620
Known GenesARL17A, ARL17B, CDC27, GOSR2, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, MAPT, MIR5089, NSF, NSFP1, RPRML, WNT3, WNT9B
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)esv2758457
Frequency
Sample Size270
Observed Gain170
Observed Loss43
Observed Complex0
Frequencyn/a


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