A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv43e212



Internal ID20148499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62083833..62095479hg38UCSC Ensembl
chr1:62549505..62561151hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3811647
hg1911647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577898, esv3577897, esv3577896
Samples400625FT, 400827MM, 401155ML, 401353BC, 400838AM, 401804FG, 4000657TM, 400686BM, 400705KK, 401875FG, 401919MD, 401580CA, 401259LS, 400156WT, 400586RD, 400312CR, 400661AD
Known GenesINADL
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)dgv43e212
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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