A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv275e212



Internal ID22783202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:96077054..96083591hg38UCSC Ensembl
chr10:97836811..97843348hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg386538
hg196538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579078, esv3579081, esv3579079
Samples401636WR, 400599CP, 400984LD, 401733CG, 400225CJ, 401582GG, 400486LS, 401038LN, 400729HC, 400270BD, 400375KA, 401968HL, 400319HT, 401874DJ, 401359HF, 401844ZD, 401847RK, 401054VM, 401858TP, 400833BB
Known GenesENTPD1-AS1
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)dgv275e212
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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