A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758217



Internal ID9980294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46021713..48481919hg19UCSC Ensembl
Innerchr10:45341719..48101925hg18UCSC Ensembl
Innerchr10:45341719..48101925hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg192460207
hg182760207
hg172760207
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759747
Supporting Variantsessv6279, essv23237, essv16804, essv7346, essv11878, essv10912, essv5219, essv9063, essv10488, essv20331, essv694, essv16222, essv15427, essv3877, essv23349, essv3112, essv6396, essv4640, essv14378, essv12657, essv16967, essv20900, essv12454, essv23413, essv4393, essv8752, essv528, essv21798, essv1599, essv1030, essv11906, essv8952, essv22388, essv15768, essv19906, essv24573, essv8429, essv3027, essv23846, essv13431, essv18092, essv3299, essv17845, essv6583, essv7134, essv11026, essv13705, essv10368, essv14630, essv1420, essv17627, essv4717, essv9149, essv3805, essv7564, essv2851, essv15495, essv10656, essv1823, essv4196, essv10749, essv4073, essv2800, essv22465, essv18186, essv17892, essv9443, essv283, essv15008, essv20798, essv13202, essv18430, essv22562, essv1201, essv22137, essv6033, essv16425, essv23992, essv21258, essv6371, essv21158, essv23570, essv5023, essv8294, essv23806, essv16113, essv4454, essv22059, essv21111, essv13653, essv4981, essv23674, essv24691, essv22862, essv20617, essv5142, essv22761, essv21763, essv15333, essv17298, essv1238, essv22347, essv17277, essv18845, essv14491, essv24727, essv6919, essv22507, essv24053, essv18148, essv20280, essv1488, essv19787, essv14369, essv24929, essv4168, essv21695, essv16540, essv21324, essv6969, essv4582, essv4881, essv21510, essv22770, essv20112, essv3725, essv774, essv22627, essv21466, essv227, essv14856, essv20242, essv12424, essv20211, essv2449, essv4839, essv12969, essv20361, essv22200, essv11455, essv20173, essv8338, essv20643, essv5106, essv19568, essv11524, essv21380, essv16686, essv9334, essv470, essv2528, essv11999, essv14774, essv1114, essv7205, essv10343, essv7297, essv23030, essv24504, essv108, essv4748, essv23484, essv15248, essv9800, essv21170, essv3469, essv8854, essv14434, essv2676, essv5583, essv19204, essv10849, essv11639, essv10037, essv24417, essv15847, essv5715, essv13069, essv6122, essv37, essv16847, essv22482, essv17734, essv1762, essv22834, essv6772, essv19623, essv12317, essv5789, essv6662, essv24250, essv18421, essv24837, essv3969, essv2324, essv3763, essv23145, essv17424, essv13753, essv24131, essv15037, essv11191, essv10552, essv847, essv11807, essv9911, essv13558, essv353, essv24396, essv3343, essv16358, essv18651, essv7001, essv16489, essv15706, essv12732, essv6815, essv16333, essv23911, essv19974, essv19687, essv9187, essv14129, essv22425, essv18271, essv11258, essv17644, essv15591, essv18330, essv24995, essv12214, essv2100, essv3161, essv23523, essv7866, essv13049, essv3560, essv2195, essv2291, essv7749, essv19251, essv17568, essv17154, essv19429, essv18084, essv13849, essv9683, essv17882, essv22001, essv21963, essv16070, essv7689, essv24814, essv3223, essv18312, essv22982, essv8150, essv10250, essv10106, essv5267, essv8239, essv23201, essv11767, essv905, essv12808, essv7411, essv12609, essv17091, essv4297, essv13018, essv1377, essv19411, essv5473, essv18760, essv2590, essv18989, essv21033, essv5414
SamplesNA18502, NA12717, NA18621, NA18947, NA19204, NA18862, NA18861, NA18508, NA18524, NA18855, NA18999, NA12751, NA12801, NA18504, NA12146, NA18633, NA12750, NA18969, NA12813, NA18563, NA19127, NA19192, NA19171, NA18940, NA10835, NA10846, NA18995, NA10854, NA12802, NA18558, NA18547, NA18960, NA18582, NA18571, NA12762, NA19130, NA18949, NA12156, NA19238, NA12044, NA11994, NA19207, NA19172, NA19128, NA18966, NA18990, NA10839, NA18951, NA18605, NA12760, NA12752, NA19120, NA07022, NA19194, NA12878, NA19161, NA18579, NA18871, NA19103, NA18572, NA18948, NA18981, NA12234, NA19208, NA19202, NA18537, NA18573, NA19142, NA11840, NA18912, NA19154, NA18857, NA18532, NA12145, NA19099, NA12707, NA18555, NA07345, NA12144, NA18523, NA19132, NA10856, NA18570, NA18858, NA18593, NA19012, NA18974, NA12043, NA18953, NA19003, NA18632, NA06991, NA18517, NA18863, NA18540, NA18564, NA12057, NA18913, NA12873, NA18943, NA07348, NA12763, NA18501, NA06994, NA19223, NA19211, NA19093, NA18636, NA18609, NA19102, NA12875, NA19116, NA18872, NA19129, NA18968, NA18624, NA12006, NA18623, NA12154, NA18612, NA18577, NA11832, NA18620, NA18997, NA18998, NA19222, NA11830, NA19203, NA11995, NA11829, NA18592, NA12814, NA18980, NA12236, NA18561, NA18507, NA19145, NA18603, NA19092, NA18545, NA07029, NA12004, NA12248, NA12865, NA10857, NA19098, NA18870, NA18526, NA12155, NA07357, NA18967, NA19005, NA18944, NA12812, NA19201, NA19119, NA18635, NA18860, NA12891, NA19131, NA18942, NA11992, NA19138, NA18964, NA06993, NA18611, NA12761, NA12005, NA18970, NA07019, NA19137, NA12815, NA19159, NA10855, NA19209, NA18975, NA18973, NA19200, NA11993, NA19007, NA11831, NA10847, NA19210, NA12753, NA12003, NA10863, NA10831, NA19152, NA12872, NA18956, NA18859, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18976, NA18503, NA10838, NA19221, NA18566, NA19000, NA10830, NA18856, NA12249, NA12892, NA12239, NA18853, NA12264, NA19101, NA06985, NA19160, NA18945, NA18576, NA18608, NA19094, NA18978, NA18914, NA11882, NA19206, NA18542, NA12716, NA11881, NA18961, NA18952, NA12864, NA10859, NA19240, NA19100, NA19144, NA18992, NA10861, NA19193, NA12874, NA18594, NA19143, NA12740, NA18971, NA19173, NA18987, NA18994, NA10860, NA18521, NA18500, NA18506, NA18854, NA18972, NA18552, NA18852, NA07056, NA18505, NA19139, NA07000, NA18522, NA07034, NA18622, NA19153, NA18562, NA18965
Known GenesAGAP4, AGAP9, ANTXRL, ANTXRLP1, ANXA8, ANXA8L1, ANXA8L2, BMS1P1, BMS1P2, BMS1P5, BMS1P6, CTSLP2, FAM21B, FAM21C, FAM25B, FAM25C, FAM25G, FAM35BP, FAM35DP, FRMPD2P1, GDF10, GDF2, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, MARCH8, NPY4R, PTPN20A, PTPN20B, RBP3, SYT15, ZFAND4, ZNF488
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)esv2758217
Frequency
Sample Size270
Observed Gain13
Observed Loss256
Observed Complex0
Frequencyn/a


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