A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1269e212



Internal ID22784196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36835710..36839701hg38UCSC Ensembl
chr21:38208010..38212001hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg383992
hg193992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568183, esv3568180, esv3568178, esv3568177, esv3568179, esv3568182, esv3568181
Samples401021SC, 401459HF, 400132HN, 400574MA, 400230TB, 401321CE, 401899MB, 400277LM, 401030GI, 400528LR, 401906DT, 401239PR, 400320RN, 401376RD, 401397WN, 401125LM, 400496BL, 401825TH, 400249BC, 401067BD, 401200BD, 401514BA, 400818BL, 400624RJ, 401861GG, 4000046CJ, 400879DS, 400177SJ, 401612HB, 400890IT, 401180GR
Known GenesHLCS
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)dgv1269e212
Frequency
Sample Size873
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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