A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758161



Internal ID9633620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57017833..57561890hg38UCSC Ensembl
Innerchr8:57930392..58474449hg19UCSC Ensembl
Innerchr8:58092946..58637003hg18UCSC Ensembl
Innerchr8:58092946..58637003hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38544058
hg19544058
hg18544058
hg17544058
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759618
Supporting Variantsessv17147, essv12712, essv6922, essv23011, essv9622, essv1967, essv1450, essv16898, essv24367, essv7823, essv6742, essv23945, essv5808, essv23861, essv16248, essv10388, essv3954, essv1207, essv7548, essv10230, essv9454, essv5300, essv4078, essv20359, essv11647, essv24480, essv4629, essv18425, essv10533, essv11162, essv15285, essv19973, essv9316, essv11792, essv20439, essv16487, essv15846, essv18209, essv13194, essv20884, essv4830, essv18654, essv5942, essv17796, essv23119, essv13786, essv12821, essv2984, essv9051, essv14784, essv15577, essv10028, essv3413, essv6717, essv12417, essv17443, essv6292, essv11207, essv13714, essv18840, essv17706, essv24987, essv17663, essv14109, essv22376, essv23353, essv15484, essv2437, essv9185, essv2055, essv4608, essv13514, essv15699, essv15376, essv4235, essv18270, essv4442, essv16667, essv3145, essv19422, essv21450, essv16087, essv2826, essv11424, essv23433, essv2180, essv11589, essv15762, essv12300, essv534, essv19532, essv22462, essv6603, essv24066, essv3696, essv11967, essv4423, essv22073, essv17293, essv7219, essv21871, essv13597, essv14409, essv4165, essv23829, essv9698, essv12507, essv8133, essv22859, essv910, essv6992, essv2280, essv18, essv2491, essv14197, essv11050, essv4871, essv3871, essv16957, essv10167, essv8326, essv20122, essv22173, essv4818, essv11950, essv9877, essv8726, essv10671, essv7279, essv9771, essv7433, essv23496, essv419, essv19650, essv12260, essv305, essv20034, essv16354, essv24884, essv12251, essv6133, essv8944, essv13444, essv5228, essv17952, essv19002, essv24566, essv16767, essv10736, essv10880, essv2888, essv20226, essv7337, essv1732, essv14316, essv6287, essv22641, essv21154, essv14645, essv22209, essv15060, essv216, essv22489, essv16418, essv14967, essv24515, essv1151, essv23593, essv8652, essv12588, essv15414
SamplesNA18998, NA18502, NA19141, NA12717, NA19222, NA19203, NA18621, NA18947, NA19204, NA18862, NA18861, NA18592, NA12814, NA18524, NA18855, NA12236, NA18561, NA18507, NA19145, NA18999, NA18603, NA19092, NA12751, NA18545, NA12801, NA18504, NA18959, NA10857, NA19098, NA18870, NA12750, NA12813, NA18563, NA19127, NA19192, NA19171, NA18944, NA18550, NA12812, NA10846, NA10854, NA12802, NA19119, NA18635, NA12891, NA18558, NA18547, NA19131, NA18960, NA11992, NA07048, NA19138, NA18964, NA19130, NA18949, NA18611, NA12761, NA12005, NA18970, NA19137, NA19238, NA12044, NA19207, NA19128, NA18966, NA12815, NA19159, NA19239, NA10839, NA19200, NA11831, NA18951, NA18605, NA19210, NA12760, NA12752, NA19120, NA07022, NA19194, NA12003, NA10831, NA19152, NA12872, NA19161, NA19205, NA18991, NA18871, NA19103, NA18948, NA11839, NA18981, NA12234, NA19208, NA18566, NA18573, NA19142, NA19000, NA11840, NA10830, NA18856, NA12056, NA18912, NA19154, NA18857, NA18532, NA18853, NA12264, NA19099, NA12707, NA19101, NA18555, NA07345, NA12144, NA18523, NA19160, NA19132, NA18570, NA18945, NA19012, NA12043, NA18608, NA18953, NA19094, NA19003, NA18978, NA18914, NA11882, NA19206, NA11881, NA18952, NA18517, NA12864, NA18863, NA18540, NA12057, NA10859, NA19140, NA18913, NA19240, NA19100, NA19144, NA19193, NA12763, NA18594, NA19143, NA19223, NA19173, NA18987, NA19211, NA18994, NA19093, NA18636, NA18609, NA19102, NA12875, NA18872, NA18552, NA18505, NA19129, NA19139, NA12006, NA18623, NA07000, NA12154, NA07034, NA18612, NA19153, NA18562, NA18620, NA18997
Known GenesLINC00588, LOC100507651, LOC286177
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)esv2758161
Frequency
Sample Size270
Observed Gain170
Observed Loss1
Observed Complex0
Frequencyn/a


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