A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758348



Internal ID9980425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19074874..20088028hg38UCSC Ensembl
Innerchr14:19662531..20556187hg19UCSC Ensembl
Innerchr14:18732531..19626027hg18UCSC Ensembl
Innerchr14:18732531..19626027hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381013155
hg19893657
hg18893497
hg17893497
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759971
Supporting Variantsessv2237, essv8649, essv14705, essv2623, essv23654, essv5217, essv3518, essv5742, essv23609, essv6344, essv4667, essv21003, essv17667, essv10464, essv17262, essv11810, essv9044, essv21424, essv11453, essv1220, essv22932, essv424, essv7698, essv16823, essv1771, essv16274, essv4671, essv14098, essv12464, essv8642, essv10772, essv1169, essv24594, essv5284, essv5157, essv21117, essv23984, essv14357, essv24521, essv22517, essv24715, essv17327, essv587, essv10138, essv4425, essv15475, essv269, essv1426, essv17624, essv21403, essv9946, essv8861, essv20572, essv11558, essv6947, essv17883, essv13911, essv4458, essv19443, essv4883, essv4278, essv3732, essv11496, essv10881, essv5909, essv21836, essv7801, essv10210, essv18329, essv5329, essv20332, essv8198, essv5041, essv10309, essv11719, essv18736, essv13429, essv14450, essv9724, essv24044, essv22120, essv20071, essv14626, essv5581, essv19959, essv18617, essv19500, essv12631, essv1144, essv24135, essv19203, essv7770, essv8442, essv1382, essv24909, essv11624, essv24893, essv1508, essv16448, essv12745, essv16679, essv15565, essv916, essv22554, essv2184, essv2442, essv167, essv15137, essv10427, essv8316, essv20308, essv3188, essv20633, essv14581, essv9684, essv19615, essv9396, essv1368, essv550, essv2589, essv6903, essv23388, essv19666, essv9597, essv25018, essv13577, essv9242, essv3698, essv15264, essv10581, essv5084, essv23262, essv13610, essv19093, essv11927, essv1632, essv27, essv20157, essv15723, essv20119, essv20386, essv12385, essv3307, essv4129, essv17198, essv17067, essv14196, essv9453, essv21309, essv7048, essv24750, essv7102, essv24274, essv23437, essv17459, essv23543, essv20763, essv648, essv18077, essv13184, essv22095, essv7296, essv6240, essv15350, essv13715, essv3014, essv12001, essv8348, essv4588, essv22810, essv6563, essv21165, essv3819, essv17208, essv16514, essv24402, essv18221, essv4774, essv11786, essv19780, essv15823, essv11133, essv21980, essv12175, essv12785, essv22226, essv18301, essv9150, essv8760, essv3173, essv1027, essv2308, essv17808, essv17550, essv23930, essv20913, essv23203, essv18824, essv12342, essv22302, essv16921, essv9774, essv15009, essv5458, essv2492, essv2053, essv13802, essv7586, essv7225, essv19017, essv7379, essv13000, essv15672
SamplesNA18998, NA18502, NA19141, NA12717, NA19222, NA11830, NA18621, NA18947, NA11995, NA11829, NA18862, NA18861, NA18592, NA18508, NA12814, NA18524, NA18980, NA12236, NA18561, NA19145, NA18999, NA18603, NA19092, NA12751, NA18545, NA07029, NA12004, NA12801, NA18504, NA12146, NA12865, NA10857, NA18870, NA18633, NA12155, NA07357, NA12813, NA18967, NA18563, NA19127, NA19192, NA19171, NA19005, NA18944, NA18940, NA18550, NA19201, NA10835, NA10846, NA18995, NA10854, NA12802, NA19119, NA18860, NA18558, NA18547, NA19131, NA18960, NA18942, NA11992, NA07048, NA18582, NA12762, NA19138, NA18964, NA06993, NA19130, NA18949, NA18611, NA12005, NA12156, NA19137, NA19238, NA12044, NA11994, NA19207, NA19172, NA19128, NA18966, NA12815, NA19159, NA18990, NA19239, NA10839, NA18975, NA19007, NA10847, NA18951, NA18605, NA19210, NA19120, NA19194, NA12753, NA12003, NA10863, NA10831, NA19152, NA12878, NA19161, NA18859, NA18515, NA19205, NA18991, NA18529, NA18516, NA18871, NA19103, NA18503, NA11839, NA18981, NA12234, NA19208, NA19202, NA18537, NA18573, NA19142, NA19000, NA11840, NA10830, NA18856, NA18912, NA12892, NA19154, NA18857, NA18853, NA12264, NA12145, NA12707, NA19101, NA18555, NA07345, NA12144, NA06985, NA18523, NA19160, NA19132, NA10856, NA18858, NA18593, NA19012, NA18974, NA18576, NA12043, NA19094, NA19003, NA18978, NA18914, NA18632, NA11882, NA18542, NA06991, NA12716, NA11881, NA18961, NA18952, NA18517, NA12864, NA18863, NA18564, NA12057, NA10859, NA19140, NA18913, NA19240, NA19144, NA18943, NA12874, NA07348, NA07055, NA18594, NA12740, NA06994, NA19223, NA19173, NA19211, NA19093, NA10860, NA18636, NA18521, NA18500, NA18609, NA18506, NA19102, NA18854, NA19116, NA18972, NA18552, NA07056, NA18505, NA19129, NA18968, NA18624, NA19139, NA12006, NA18623, NA07000, NA12154, NA18612, NA18622, NA19153, NA18965, NA18577, NA11832, NA18620, NA18997
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2, OR4Q3, POTEM
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)esv2758348
Frequency
Sample Size270
Observed Gain49
Observed Loss164
Observed Complex0
Frequencyn/a


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