A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763854



Internal ID10031204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86053909..86062079hg38UCSC Ensembl
Innerchr4:86975062..86983232hg19UCSC Ensembl
Innerchr4:87194086..87202256hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg388171
hg198171
hg188171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029695, essv7029686, essv7029707, essv7029718, essv7029713, essv7029715, essv7029728, essv7029699, essv7029719, essv7029722, essv7029689, essv7029729, essv7029684, essv7029710, essv7029688, essv7029736, essv7029685, essv7029727, essv7029709, essv7029703, essv7029706, essv7029721, essv7029731, essv7029730, essv7029693, essv7029691, essv7029702, essv7029711, essv7029714, essv7029704, essv7029725, essv7029724, essv7029700, essv7029717, essv7029716, essv7029735, essv7029687, essv7029708, essv7029732, essv7029698, essv7029726, essv7029733, essv7029692, essv7029697, essv7029705, essv7029696, essv7029720, essv7029694
SamplesSW_0119, SW_1165, SW_1244, SW_1162, SW_0046, SW_0059, SW_1105, SW_1439, SW_0862, SW_0197, SW_0758, SW_1210, SW_0606, SW_1470, SW_1138, SW_1023, SW_0860, SW_0790, SW_0607, SW_1057, SW_0063, SW_1189, SW_0814, SW_0323, SW_0113, SW_0099, SW_0256, SW_0586, SW_0007, SW_1294, SW_0890, SW_0836, SW_0155, SW_1113, SW_0691, SW_0505, SW_0072, SW_0201, SW_1246, SW_1063, SW_1393, SW_0653, SW_1184, SW_1206, SW_0031, SW_0190, SW_1242, SW_0861
Known GenesMAPK10
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)esv2763854
Frequency
Sample Size1109
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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