A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv249e212



Internal ID20148705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:62807183..62810361hg38UCSC Ensembl
chr10:64566943..64570121hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg383179
hg193179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578938, esv3578941, esv3578940
Samples400773GS, 401133JG, 400785AK, 400243CK
Known GenesADO
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)dgv249e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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