A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1397e212



Internal ID20149853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100607666..100723653hg38UCSC Ensembl
chr3:100326510..100442497hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38115988
hg19115988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575581, esv3575589, esv3575585, esv3575588, esv3575587, esv3575586
Samples400336BG, 400889CM, 400949AM, 401719RL, 400486LS, 400131CM, 401869BG, 401155ML, 400385LJ, 400038CK, 401475MK, 400686BM, 400542EG, 401166WJ, 400792RE
Known GenesGPR128, TFG
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)dgv1397e212
Frequency
Sample Size873
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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