A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572683



Internal ID18700881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389579..39522136hg38UCSC Ensembl
Innerchr8:39247098..39379655hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38132558
hg19132558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2068e212
Supporting Variantsessv9787901, essv9787881, essv9787887, essv9787886, essv9787888, essv9787895, essv9787897, essv9787885, essv9787882, essv9787883, essv9787893, essv9787891, essv9787898, essv9787890, essv9787896, essv9787884, essv9787892, essv9787894, essv9787899
Samples401459HF, 400247CL, 401518VK, 400141CC, 400068PW, 401249TP, 400441GS, 402056KD, 400270BD, 400060MC, 401764JJ, 400793BR, 400955BE, 402054BD, 401981GF, 401595BL, 400471YS, 400508RD, 400243CK
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3572683
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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