A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758034



Internal ID9633493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:60001..775274hg38UCSC Ensembl
Innerchr6:60001..775274hg19UCSC Ensembl
Innerchr6:5001..720274hg18UCSC Ensembl
Innerchr6:5001..720274hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38715274
hg19715274
hg18715274
hg17715274
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759401
Supporting Variantsessv1409, essv7604, essv8180, essv22150, essv12768, essv24075, essv15016, essv5719, essv18306, essv21783, essv16348, essv8299, essv13790, essv1721, essv22038, essv8789, essv13478, essv12513, essv12587, essv17573, essv13857, essv8769, essv15684, essv1879, essv2990, essv10104, essv16782, essv9173, essv10057, essv22457, essv10458, essv2479, essv17606, essv10794, essv9653, essv17291, essv11123, essv11414, essv12638, essv13059, essv21034, essv2524, essv13186, essv16515, essv811, essv7067, essv13725, essv23539, essv4405, essv1181, essv24793, essv5804, essv7209, essv17047, essv11728, essv16098, essv14890, essv9014, essv17885, essv20167, essv22905, essv5205, essv19387, essv3109, essv8956, essv20084, essv2850, essv5913, essv24721, essv4077, essv20908, essv1937, essv6588, essv15728, essv23684, essv665, essv11229, essv15381, essv3383, essv3861, essv15517, essv4562, essv13572, essv19021, essv9913, essv12352, essv4450, essv16464, essv14509, essv2097, essv24386, essv19545, essv15996, essv554, essv4740, essv22191, essv24491, essv5308, essv18836, essv7833, essv21178, essv779, essv16938, essv14294, essv15887, essv6361, essv20334, essv20555, essv2076, essv23865, essv2897, essv15039, essv6736, essv18656, essv24268, essv24910, essv20761, essv116, essv18918, essv24825, essv22313, essv12806, essv3700, essv7744, essv10549, essv21127, essv287, essv9361, essv5252, essv22841, essv11959, essv6705, essv16825, essv15339, essv17797, essv21517, essv7110, essv1491, essv18387, essv11025, essv19896, essv21306, essv21832, essv10895, essv18771, essv11873, essv22330, essv6156, essv1452, essv12268, essv14077, essv15600, essv449, essv4759, essv14760, essv4261, essv14583, essv20236, essv10681, essv16216, essv24994, essv15272, essv5466, essv8421, essv19230, essv22534, essv18193, essv13617, essv23405, essv10413, essv20382, essv12979, essv9824
SamplesNA10859, NA19137, NA10831, NA18621, NA19207, NA18870, NA12154, NA18863, NA19127, NA19194, NA12249, NA18861, NA18951, NA19192, NA18914, NA12802, NA19222, NA12801, NA18523, NA18952, NA18975, NA07056, NA19209, NA18501, NA19093, NA19120, NA18500, NA10839, NA18550, NA19003, NA18859, NA19223, NA12815, NA18545, NA18603, NA18516, NA12707, NA12813, NA06993, NA19203, NA18953, NA18969, NA18947, NA18573, NA18608, NA18542, NA12005, NA18855, NA19144, NA19210, NA07348, NA10855, NA18994, NA18524, NA18505, NA12044, NA18862, NA18949, NA19143, NA10863, NA18632, NA19161, NA18912, NA19211, NA18998, NA18624, NA18508, NA11839, NA11840, NA12753, NA12004, NA18854, NA18566, NA18635, NA10846, NA12864, NA18563, NA12762, NA12873, NA12814, NA18856, NA07048, NA12761, NA18956, NA18959, NA18609, NA18547, NA18976, NA18973, NA18593, NA19100, NA12234, NA12144, NA12751, NA12239, NA19153, NA18537, NA18620, NA18515, NA19129, NA19172, NA19094, NA19103, NA06985, NA18968, NA19102, NA18522, NA18502, NA19119, NA18558, NA19098, NA19154, NA12057, NA10856, NA19139, NA18978, NA18997, NA19221, NA18562, NA19131, NA19159, NA18945, NA19145, NA11832, NA18999, NA10857, NA12146, NA18552, NA19138, NA10860, NA19101, NA06991, NA19193, NA18872, NA19128, NA18857, NA19116, NA19132, NA10830, NA19099, NA11830, NA12003, NA18944, NA19205, NA10838, NA18852, NA19160, NA18611, NA11829, NA12236, NA19130, NA19240, NA12874, NA18532, NA18853, NA19204, NA18981, NA06994, NA18913, NA12760, NA19092, NA19200, NA19007, NA19202, NA07000, NA18980, NA10854
Known GenesDUSP22, EXOC2, HUS1B, IRF4
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)esv2758034
Frequency
Sample Size270
Observed Gain160
Observed Loss13
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer