A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758376



Internal ID9633835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34250820..34696046hg38UCSC Ensembl
Innerchr15:34543021..34988247hg19UCSC Ensembl
Innerchr15:32330313..32775539hg18UCSC Ensembl
Innerchr15:32330313..32775539hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38445227
hg19445227
hg18445227
hg17445227
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760024
Supporting Variantsessv3728, essv433, essv22491, essv15807, essv12650, essv10466, essv16948, essv297, essv6286, essv13465, essv13147, essv5249, essv21072, essv18852, essv3552, essv16674, essv10835, essv5183, essv10241, essv13668, essv18333, essv18982, essv5056, essv3070, essv21838, essv18404, essv6986, essv3277, essv2587, essv11107, essv8777, essv3744, essv1379, essv22190, essv18171, essv8243, essv6915, essv21385, essv22110, essv16794, essv14489, essv13046, essv22400, essv3123, essv8911, essv16546, essv11850, essv19676, essv14327, essv22441, essv15357, essv13625, essv10572, essv24406, essv9355, essv6372, essv24811, essv20239, essv17724, essv22576, essv19538, essv1918, essv7705, essv3209, essv3890, essv20315, essv1602, essv16458, essv20154, essv17461, essv13933, essv7786, essv7576, essv6591, essv5151, essv24824, essv4187, essv868, essv6821, essv10307, essv20901, essv2455, essv21310, essv12273, essv10375, essv783, essv13755, essv10991, essv9025, essv22338, essv12322, essv569, essv19229, essv18615, essv23000, essv19942, essv14987, essv5915, essv4159, essv22920, essv12572, essv24936, essv21422, essv7155, essv1457, essv24998, essv10110, essv20116, essv22757, essv15509, essv12795, essv17103, essv3976, essv18066, essv17239, essv6699, essv2236, essv16104, essv4367, essv5392, essv11987, essv6386, essv4711, essv23048, essv3788, essv22084, essv21223, essv5995, essv18253, essv24535, essv2090, essv15597, essv6182, essv22637, essv10008, essv23480, essv4468, essv8139, essv24039, essv1505, essv23240, essv19176, essv6745, essv5561, essv9178, essv17928, essv7117, essv1147, essv11712, essv24571, essv23198, essv373, essv1901, essv4886, essv19406, essv23681, essv2679, essv16279, essv23613, essv23792, essv17791, essv23566, essv5710, essv4548, essv10700, essv8420, essv13526, essv8830, essv14157, essv12482, essv15736, essv14710, essv5479, essv20409, essv7371, essv14414, essv24266, essv23886, essv21997, essv11791, essv17621, essv20792, essv22850, essv4280, essv20573, essv19644, essv5126, essv21791, essv17661, essv7869, essv1774, essv4639, essv23382, essv232, essv8302, essv24141, essv15119, essv17498, essv9424, essv7275, essv9600, essv23420, essv2792, essv5824, essv21543, essv1224, essv7305, essv23135, essv13020, essv18112, essv4828, essv22418, essv18706
SamplesNA18998, NA19141, NA12717, NA19222, NA11830, NA18621, NA18947, NA11995, NA18862, NA18592, NA18508, NA12814, NA18524, NA18980, NA18855, NA12236, NA18561, NA18999, NA18603, NA19092, NA12751, NA18545, NA07029, NA12004, NA12801, NA18504, NA12146, NA18959, NA12865, NA10857, NA19098, NA18870, NA18526, NA18633, NA12750, NA12155, NA07357, NA18969, NA12813, NA18967, NA18563, NA19127, NA19192, NA18944, NA18550, NA12812, NA19201, NA10846, NA18995, NA10854, NA12802, NA19119, NA12891, NA18558, NA18547, NA19131, NA18942, NA11992, NA18571, NA12762, NA19138, NA18964, NA06993, NA19130, NA18949, NA18611, NA12761, NA12005, NA18970, NA07019, NA12156, NA19137, NA12044, NA11994, NA19207, NA19172, NA19128, NA18966, NA19159, NA18990, NA10839, NA19200, NA11993, NA19007, NA10847, NA18605, NA19210, NA12760, NA12752, NA19120, NA19194, NA12753, NA12003, NA10863, NA10831, NA19152, NA12878, NA12872, NA19161, NA18956, NA18859, NA18515, NA18529, NA18516, NA18579, NA18871, NA19103, NA18572, NA18976, NA18948, NA18503, NA11839, NA10838, NA18981, NA12234, NA19208, NA19221, NA19202, NA18537, NA18566, NA18573, NA19142, NA19000, NA11840, NA10830, NA12249, NA19154, NA18532, NA12239, NA18853, NA12264, NA12145, NA19099, NA12707, NA19101, NA18555, NA07345, NA12144, NA06985, NA19160, NA19132, NA10856, NA18570, NA18593, NA18974, NA18576, NA12043, NA18608, NA18978, NA18632, NA11882, NA19206, NA18542, NA06991, NA11881, NA18961, NA18952, NA18517, NA12864, NA18540, NA18564, NA12057, NA10859, NA19140, NA19240, NA19100, NA12873, NA19144, NA10861, NA18943, NA12874, NA07348, NA12763, NA18594, NA19143, NA12740, NA06994, NA18971, NA19223, NA18987, NA19211, NA18994, NA10860, NA18636, NA18500, NA18609, NA18506, NA19102, NA12875, NA18854, NA19116, NA18972, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA18624, NA19139, NA12006, NA18623, NA07000, NA12154, NA07034, NA18612, NA18622, NA19153, NA18562, NA18965, NA18577, NA11832, NA18997
Known GenesGOLGA8A, GOLGA8B, LPCAT4, MIR1233-1, MIR1233-2, MIR5588, NOP10, NUTM1, SLC12A6
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)esv2758376
Frequency
Sample Size270
Observed Gain211
Observed Loss2
Observed Complex0
Frequencyn/a


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