A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1720e212



Internal ID22784647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27118728..27128869hg38UCSC Ensembl
chr6:27086507..27096648hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3810142
hg1910142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570824, esv3570821, esv3570823, esv3570822
Samples400073HT, 401067BD, 401700BN, 400444MM, 401152MV, 400130HA
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)dgv1720e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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