A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764110



Internal ID10031460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18991998..19001311hg38UCSC Ensembl
Innerchr8:18849508..18858821hg19UCSC Ensembl
Innerchr8:18893788..18903101hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg389314
hg199314
hg189314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992829, essv6992826, essv6992821, essv6992828, essv6992831, essv6992820, essv6992823, essv6992832, essv6992818, essv6992830, essv6992824, essv6992825, essv6992819, essv6992827
SamplesSW_1248, SW_0144, SW_0631, SW_0173, SW_1290, SW_1147, SW_1482, SW_1406, SW_0256, SW_0830, SW_1365, SW_0578, SW_1125, SW_0648
Known GenesPSD3
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)esv2764110
Frequency
Sample Size1109
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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