A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757923



Internal ID9633382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15442993..15747897hg38UCSC Ensembl
Innerchr4:15444617..15749520hg19UCSC Ensembl
Innerchr4:15053715..15358618hg18UCSC Ensembl
Innerchr4:15120886..15425789hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38304905
hg19304904
hg18304904
hg17304904
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759227
Supporting Variantsessv7850, essv21962, essv3272, essv20160, essv17055, essv24563, essv6237, essv5386, essv22774, essv16766, essv18772, essv1197, essv6967, essv16282, essv16670, essv4960, essv17733, essv10817, essv7591, essv21696, essv14397, essv4384, essv10624, essv9414, essv22971, essv24516, essv2301, essv1851, essv3993, essv18588, essv15223, essv16088, essv9384, essv7739, essv18150, essv2081, essv8632, essv3019, essv6686, essv6001, essv5791, essv16821, essv14113, essv7021, essv19574, essv6364, essv2217, essv7392, essv20635, essv22666, essv4755, essv23676, essv4093, essv17635, essv14362, essv9090, essv11856, essv8880, essv109, essv12982, essv23057, essv10354, essv21032, essv13807, essv19285, essv21317, essv14580, essv23882, essv8273, essv15519, essv15691, essv15411, essv2824, essv16436, essv24722, essv18377, essv13925, essv5019, essv3745, essv2341, essv12748, essv21772, essv14779, essv10036, essv7691, essv19421, essv9109, essv8376, essv22175, essv10416, essv1418, essv23460, essv20597, essv8950, essv14853, essv2634, essv3530, essv8173, essv6823, essv19777, essv24467, essv22318, essv13074, essv22056, essv20898, essv11585, essv12455, essv19968, essv19179, essv2871, essv1245, essv5155, essv13453, essv13711, essv10793, essv11779, essv7111, essv11120, essv656, essv7321, essv19007, essv13557, essv5092, essv4150, essv16055, essv21455, essv21220, essv20366, essv15131, essv24754, essv22898, essv13178, essv3131
SamplesNA12717, NA19222, NA11830, NA19203, NA11995, NA11829, NA18861, NA18508, NA12814, NA18855, NA18507, NA18545, NA12801, NA18504, NA12248, NA12865, NA10857, NA18633, NA07357, NA18969, NA12813, NA18967, NA18563, NA19192, NA18944, NA18940, NA12812, NA10835, NA18995, NA12802, NA19119, NA18635, NA18860, NA18558, NA18960, NA11992, NA18582, NA18571, NA18949, NA12005, NA18970, NA07019, NA19207, NA19172, NA18966, NA19159, NA19239, NA18975, NA19200, NA11993, NA18951, NA12760, NA12752, NA19194, NA12753, NA10863, NA12878, NA12872, NA19161, NA18859, NA19205, NA18637, NA18579, NA18871, NA19103, NA18976, NA10838, NA18981, NA12234, NA19208, NA19221, NA19202, NA18537, NA18566, NA18573, NA19142, NA11840, NA10830, NA12249, NA12056, NA18912, NA12892, NA12239, NA18853, NA19099, NA18555, NA06985, NA18523, NA19160, NA19132, NA18570, NA18858, NA18576, NA18608, NA18953, NA19094, NA18914, NA19206, NA18542, NA06991, NA18961, NA12864, NA18564, NA19100, NA12874, NA18501, NA19173, NA18987, NA19211, NA10860, NA18636, NA18609, NA18506, NA19102, NA18854, NA18972, NA18872, NA18852, NA07056, NA18505, NA19129, NA18968, NA19139, NA18623, NA18522, NA12154, NA07034, NA18612, NA19153, NA18965, NA18577, NA11832, NA18620
Known GenesBST1, C1QTNF7, CC2D2A, FAM200B, FBXL5
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)esv2757923
Frequency
Sample Size270
Observed Gain2
Observed Loss131
Observed Complex0
Frequencyn/a


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