A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757976



Internal ID9980053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189361857..189773942hg38UCSC Ensembl
Innerchr4:190283011..190695096hg19UCSC Ensembl
Innerchr4:190520005..190932090hg18UCSC Ensembl
Innerchr4:190658160..191070245hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38412086
hg19412086
hg18412086
hg17412086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759314
Supporting Variantsessv6914, essv10748, essv17421, essv23820, essv9607, essv3823, essv5218, essv21259, essv4980, essv5124, essv15719, essv16158, essv4005, essv18160, essv6014, essv12793, essv10261, essv10074, essv4497, essv15872, essv9336, essv24557, essv19669, essv8955, essv5548, essv12635, essv10884, essv4685, essv18095, essv5798, essv20092, essv10229, essv21542, essv11459, essv22125, essv19458, essv3412, essv16883, essv3231, essv22495, essv6842, essv13904, essv15010, essv1022, essv22387, essv10125, essv14105, essv10695, essv22748, essv2077, essv23618, essv18326, essv23180, essv2665, essv20610, essv12233, essv384, essv23124, essv19109, essv17301, essv836, essv1521, essv15093, essv11285, essv9892, essv17044, essv143, essv20289, essv8878, essv575, essv17610, essv14887, essv11008, essv24531, essv24830, essv4812, essv1357, essv23083, essv9154, essv21411, essv23913, essv15418, essv23544, essv19177, essv17945, essv17645, essv23227, essv3116, essv1182, essv11625, essv14743, essv9830, essv22179, essv20398, essv2255, essv4205, essv13742, essv21333, essv13628, essv23436, essv7268, essv4173, essv5243, essv8296, essv18991, essv16318, essv11188, essv4635, essv21855, essv907, essv15987, essv5370, essv2581, essv22833, essv8423, essv74, essv21160, essv2469, essv273, essv20185, essv24483, essv21724, essv14400, essv1097, essv6323, essv3529, essv3151, essv6632, essv15636, essv16430, essv14415, essv7204, essv223, essv19978, essv14138, essv23358, essv6667, essv5027, essv6149, essv2881, essv12475, essv9049, essv21456, essv3458, essv19282, essv2211, essv16637, essv8767, essv15540, essv23970, essv8648, essv18454, essv7585, essv1462, essv2809, essv18382, essv3297, essv5721, essv21796, essv4904, essv24244, essv8347, essv11490, essv7122, essv6254, essv23477, essv20768, essv5449, essv8217, essv4054, essv12364, essv22883, essv21227, essv7310, essv24421, essv482, essv19751, essv18841, essv18628, essv5933, essv12560, essv22469, essv10435, essv24744, essv20667, essv7773, essv6960, essv9694, essv11970, essv18701, essv17705, essv24974, essv1781, essv19643, essv17124, essv7047, essv10547, essv20142, essv15247, essv22048, essv14497, essv22647, essv13022, essv641, essv2494, essv4298, essv4360, essv15313, essv22296, essv24702, essv14636, essv16803, essv1258, essv21966, essv2305, essv13047, essv12765, essv21064, essv3714, essv1608, essv11933, essv13161, essv12420, essv24046, essv13716, essv1922, essv17745, essv1872, essv24897, essv16263, essv7376, essv16555, essv14266, essv15607, essv11822, essv17582, essv10932, essv20911, essv16966, essv7732, essv2970, essv9171, essv3737, essv6750, essv4560
SamplesNA18502, NA12717, NA18621, NA18947, NA19204, NA18862, NA18861, NA18508, NA18524, NA18855, NA18999, NA12751, NA12801, NA12146, NA18959, NA18633, NA12750, NA18969, NA12813, NA18563, NA19127, NA19171, NA18940, NA10835, NA10846, NA18995, NA10854, NA12802, NA18547, NA18960, NA07048, NA18582, NA18571, NA12762, NA19130, NA18949, NA12156, NA19238, NA12044, NA19207, NA19172, NA19128, NA18966, NA18990, NA19239, NA10839, NA18951, NA18605, NA12760, NA12752, NA19120, NA19194, NA12878, NA19161, NA18579, NA18871, NA19103, NA18948, NA18981, NA12234, NA19202, NA18537, NA18573, NA19142, NA11840, NA12056, 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, NA19140, NA18913, NA12873, NA18943, NA12763, NA18501, NA06994, NA19223, NA19211, NA19093, NA18636, NA18609, NA19102, NA12875, NA19116, NA18872, NA19129, NA18968, NA18624, NA12006, NA18623, NA12154, NA18612, NA18577, NA11832, NA18620, NA18997, NA18998, NA19141, NA11830, NA19203, NA11995, NA11829, NA18592, NA12814, NA18980, NA18561, NA18507, NA19145, NA18603, NA19092, NA18545, NA07029, NA12004, NA12248, NA12865, NA10857, NA19098, NA18870, NA18526, NA12155, NA18967, NA19005, NA18944, NA18550, 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, NA19210, NA12753, NA12003, NA10831, NA19152, NA12872, NA18859, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18976, NA11839, NA10838, NA18566, NA19000, NA10830, NA18856, NA12249, NA12892, NA12239, NA18853, NA12264, NA19101, NA06985, NA18945, NA18576, NA18608, NA19094, NA18978, NA18914, NA11882, NA18542, NA12716, NA11881, NA18961, NA18952, NA10859, NA19240, NA19100, NA19144, NA18992, NA19193, NA12874, NA07055, NA18594, NA19143, NA12740, NA18971, NA19173, NA18987, NA10860, NA18521, NA18500, NA18506, NA18854, NA18972, NA18552, NA18852, NA07056, NA18505, NA19139, NA07000, NA18522, NA07034, NA18622, NA19153, NA18562, NA18965
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)esv2757976
Frequency
Sample Size270
Observed Gain245
Observed Loss0
Observed Complex0
Frequencyn/a


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