A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580531



Internal ID18362043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128794697..128806710hg38UCSC Ensembl
Innerchr12:129279242..129291255hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3812014
hg1912014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv527e212
Supporting Variantsessv9802641, essv9802643, essv9802646, essv9802640, essv9802642, essv9802647
Samples400730SH, 400438DB, 401386WA, 402001SR, 401265CB, 400782IE
Known GenesSLC15A4
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)esv3580531
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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