A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9802630



Internal ID18288783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128679608..128885566hg38UCSC Ensembl
Innerchr12:129164153..129370111hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38205959
hg19205959
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3581993
Supporting Variants
Samples400270BD
Known GenesGLT1D1, SLC15A4, TMEM132C
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
CommentsNumber of probes=216
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9802630
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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