A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757751



Internal ID9633210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:141387477..142972397hg17UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg171584921
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758966
Supporting Variantsessv3138, essv6891, essv22754, essv15692, essv5062, essv2793, essv1380, essv5324, essv6369, essv11644, essv5492, essv22307, essv4550, essv3026, essv1136, essv2060, essv20061, essv8194, essv7555, essv17810, essv11011, essv19894, essv19527, essv2490, essv785, essv11413, essv7730, essv22439, essv21970, essv23181, essv560, essv22422, essv1232, essv12754, essv8953, essv134, essv6995, essv18393, essv10005, essv815, essv370, essv23934, essv18115, essv6768, essv23250, essv3515, essv15514, essv1504, essv1110, essv19240, essv23572, essv22572, essv3735, essv23550, essv3292, essv20803, essv4034, essv2854, essv17975, essv3981, essv2448, essv22929, essv15562, essv24776, essv5333, essv5522, essv24890, essv4826, essv14495, essv5828, essv3461, essv16889, essv5136, essv8838, essv3379, essv3147, essv20570, essv4872, essv14487, essv6953, essv20953, essv4958, essv1848, essv6687, essv6869, essv4657, essv24420, essv12204, essv23780, essv1965, essv11175, essv9990, essv18339, essv17019, essv4200, essv555, essv21027, essv24405, essv18087, essv6258, essv24804, essv7402, essv17623, essv13672, essv18630, essv12774, essv10898, essv18702, essv2257, essv21806, essv23848, essv14473, essv24706, essv5180, essv4018, essv19605, essv23391, essv1778, essv4779, essv4160, essv15656, essv21446, essv21139, essv4030, essv24245, essv6579, essv18093, essv9719, essv24928, essv5131, essv6810, essv13900, essv20342, essv24002, essv2605, essv19989, essv5296, essv24296, essv16881, essv7772, essv3195, essv2192, essv4237, essv22239, essv7263, essv1436, essv22858, essv2285, essv22640, essv17429, essv425, essv11154, essv1612, essv23017, essv17274, essv16506, essv4692, essv22354, essv21318, essv3810, essv21191, essv25012, essv17719, essv19183, essv11036, essv4396, essv20427, essv17554, essv1212, essv22843, essv11228, essv16633, essv24970, essv24708, essv18939, essv1346, essv7317, essv22092, essv20309, essv2638, essv20140, essv18410, essv6600, essv7206, essv29, essv5485, essv20406, essv1528, essv7829, essv72, essv23596, essv21540, essv1176, essv6141, essv5750, essv20647
SamplesNA18998, NA12717, NA11830, NA18621, NA11995, NA11829, NA19204, NA18592, NA18508, NA12814, NA18524, NA18980, NA12236, NA18561, NA18999, NA18603, NA18545, NA07029, NA12004, NA12801, NA12146, NA18959, NA12865, NA18526, NA18633, NA12155, NA07357, NA18969, NA12813, NA18967, NA18563, NA18944, NA12812, NA19201, NA18995, NA10854, NA19119, NA18635, NA18558, NA18547, NA18960, NA18942, NA07048, NA18582, NA12762, NA18964, NA06993, NA18949, NA18611, NA12761, NA12005, NA18970, NA07019, NA12156, NA19137, NA12044, NA11994, NA18966, NA12815, NA18990, NA19209, NA10839, NA18973, NA19200, NA11993, NA19007, NA18951, NA18605, NA19210, NA12760, NA12752, NA19120, NA07022, NA12753, NA12003, NA10831, NA12878, NA12872, NA18956, NA19205, NA18991, NA18529, NA18637, NA18579, NA18976, NA18503, NA11839, NA10838, NA18981, NA12234, NA19202, NA18566, NA18573, NA19142, NA10830, NA12249, NA18912, NA12892, NA19154, NA18857, NA18532, NA12145, NA19099, NA12707, NA19101, NA18555, NA07345, NA06985, NA10856, NA18570, NA18593, NA18945, NA19012, NA18974, NA18576, NA12043, NA18608, NA18953, NA19003, NA18914, NA18632, NA18542, NA06991, NA12716, NA18961, NA18952, NA12864, NA18540, NA18564, NA18913, NA12873, NA19144, NA18992, NA10861, NA18943, NA12874, NA07348, NA12763, NA18594, NA19143, NA06994, NA18971, NA18987, NA19211, NA10860, NA18636, NA18609, NA12875, NA18854, NA19116, NA18972, NA07056, NA18505, NA18968, NA18624, NA12006, NA18623, NA07000, NA12154, NA18612, NA18622, NA18562, NA18965, NA18577, NA18620, NA18997
Known Genes
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)esv2757751
Frequency
Sample Size270
Observed Gain164
Observed Loss5
Observed Complex0
Frequencyn/a


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