A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761224



Internal ID10377531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:64322949..64347074hg38UCSC Ensembl
Innerchr8:65235506..65259631hg19UCSC Ensembl
Innerchr8:65398060..65422185hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3824126
hg1924126
hg1824126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016828, essv7016863, essv7016873, essv7016860, essv7016835, essv7016854, essv7016843, essv7016841, essv7016829, essv7016851, essv7016839, essv7016859, essv7016837, essv7016842, essv7016832, essv7016836, essv7016870, essv7016824, essv7016846, essv7016834, essv7016830, essv7016857, essv7016872, essv7016869, essv7016853, essv7016868, essv7016858, essv7016852, essv7016847, essv7016840, essv7016845, essv7016826, essv7016862, essv7016871, essv7016866, essv7016831, essv7016861, essv7016848, essv7016850, essv7016849, essv7016875, essv7016827, essv7016865, essv7016838, essv7016874, essv7016864, essv7016825
SamplesRW_0585, RW_0071, RW_0095, RW_0203, RW_0087, RW_0148, RW_0526, RW_0099, RW_0634, RW_0178, RW_0243, RW_0555, RW_0217, RW_0098, RW_0511, RW_0510, RW_0503, RW_0626, RW_0603, RW_0358, RW_0631, RW_0541, RW_0539, RW_0602, RW_0279, RW_0567, RW_0625, RW_0260, RW_0210, RW_0571, RW_0193, RW_0523, RW_0341, RW_0073, RW_0669, RW_0605, RW_0529, RW_0229, RW_0119, RW_0149, RW_0070, RW_0033, RW_0361, RW_0057, RW_0266, RW_0590, RW_0162
Known Genes
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)esv2761224
Frequency
Sample Size1109
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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