A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580288



Internal ID18361800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59718938..59733904hg38UCSC Ensembl
Innerchr12:60112719..60127685hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3814967
hg1914967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801413, essv9801416, essv9801415, essv9801414, essv9801412
Samples400468OB, 400272AE, 401210PB, 401919MD, 400201PK
Known GenesSLC16A7
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)esv3580288
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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