A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv247e212



Internal ID22783174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58435730..58446155hg38UCSC Ensembl
chr10:60195490..60205915hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3810426
hg1910426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577338, esv3577349, esv3577372, esv3577361
Samples400075MR, 401734PG, 400683EC, 400620MT, 400523GB, 401792KR, 401155ML, 401133JG, 401251WN, 400082SD, 400705KK, 400571WV, 400450FG, 401182OC, 401786WD, 400130HA, 401517PR, 400234CA, 401490TL
Known Genes
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)dgv247e212
Frequency
Sample Size873
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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