A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763894



Internal ID10377930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:15713913..15863223hg38UCSC Ensembl
Innerchr5:15714022..15863332hg19UCSC Ensembl
Innerchr5:15767022..15916332hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38149311
hg19149311
hg18149311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030840, essv7030864, essv7030814, essv7030885, essv7030821, essv7030880, essv7030867, essv7030863, essv7030853, essv7030875, essv7030884, essv7030881, essv7030844, essv7030883, essv7030831, essv7030858, essv7030818, essv7030862, essv7030843, essv7030878, essv7030872, essv7030826, essv7030850, essv7030866, essv7030835, essv7030819, essv7030854, essv7030895, essv7030888, essv7030833, essv7030832, essv7030874, essv7030813, essv7030851, essv7030882, essv7030841, essv7030842, essv7030849, essv7030839, essv7030817, essv7030827, essv7030859, essv7030822, essv7030891, essv7030847, essv7030877, essv7030855, essv7030825, essv7030829, essv7030889, essv7030887, essv7030815, essv7030837, essv7030830, essv7030816, essv7030876, essv7030820, essv7030893, essv7030886, essv7030846, essv7030892, essv7030824, essv7030865, essv7030852, essv7030838, essv7030896, essv7030873, essv7030860, essv7030836, essv7030861, essv7030848, essv7030828, essv7030870, essv7030869, essv7030897, essv7030894, essv7030871
SamplesSW_1000, SW_0841, SW_0201, SW_0119, SW_1402, SW_1063, SW_1064, SW_0623, SW_0607, SW_1051, SW_1407, SW_0046, SW_1092, SW_1184, SW_0804, SW_0570, SW_0802, SW_0015, SW_1285, SW_1413, SW_0121, SW_1391, SW_1456, SW_1309, SW_0860, SW_1419, SW_1469, SW_0062, SW_1477, SW_0172, SW_0830, SW_1028, SW_1358, SW_1289, SW_1144, SW_1527, SW_0008, SW_0021, SW_1148, SW_1088, SW_0076, SW_1414, SW_1228, SW_1341, SW_0183, SW_1012, SW_0165, SW_1113, SW_1342, SW_1193, SW_1374, SW_1071, SW_1345, SW_0582, SW_1517, SW_0113, SW_0883, SW_1480, SW_0018, SW_1551, SW_0198, SW_1077, SW_0822, SW_0049, SW_1087, SW_1137, SW_0717, SW_0603, SW_1119, SW_0352, SW_0790, SW_0148, SW_1003, SW_1511, SW_0675, SW_0844
Known GenesFBXL7
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2763894
Frequency
Sample Size1109
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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