A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580445



Internal ID18361957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104016333..104028420hg38UCSC Ensembl
Innerchr12:104410111..104422198hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3812088
hg1912088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9802151, essv9802150
Samples400059SV, 401728WK
Known GenesGLT8D2
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)esv3580445
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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