A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv43e212

Internal ID20148499
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62083833..62095479hg38UCSC Ensembl
chr1:62549505..62561151hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577896, esv3577898, esv3577897
Samples400312CR, 401580CA, 401155ML, 401804FG, 400705KK, 400625FT, 400661AD, 401259LS, 400686BM, 4000657TM, 400586RD, 401919MD, 400838AM, 401875FG, 400156WT, 401353BC, 400827MM
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
Pubmed ID25503493
Accession Number(s)dgv43e212
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0

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