A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1445e212



Internal ID22784372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196784021..196788285hg38UCSC Ensembl
chr3:196510892..196515156hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384265
hg194265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569225, esv3569223, esv3569224
Samples401459HF, 401212HJ, 400140WM, 401536BD, 400425SL, 401006ES, 401965TG, 400353ML, 401448BJ, 400870KC, 401519SA, 400278PD, 400471YS, 400044HS, 401817MC, 400661AD
Known GenesPAK2
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)dgv1445e212
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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