A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577892



Internal ID18706090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61642134..61654401hg38UCSC Ensembl
Innerchr1:62107806..62120073hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3812268
hg1912268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e212
Supporting Variantsessv9767711, essv9767667, essv9767722, essv9767645, essv9767779, essv9767689, essv9767801, essv9767790, essv9767678, essv9767733, essv9767633, essv9767768, essv9767622, essv9767700, essv9767744, essv9767757, essv9767656
Samples401330RR, 401321CE, 400449PK, 400553PP, 401030GI, 401582GG, 401908YM, 400134WK, 400653GP, 401791FG, 401589HP, 400082SD, 402022SM, 401428LD, 400164SS, 401066MM, 400269DA
Known GenesMGC34796
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)esv3577892
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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