A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1514e212



Internal ID22784441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:95026058..95032168hg38UCSC Ensembl
chr4:95947209..95953319hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg386111
hg196111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569611, esv3569610, esv3569612
Samples400145BL, 401465TB, 400984LD, 400618GC, 400569WC, 400634MP, 401285HN, 400313DF, 400230TB, 401302LJ, 400899NK, 401093VL, 400277LM, 401857VG, 401869BG, 400337HG, 400688FL, 400320RN, 400749VW, 401766MR, 401155ML, 400817MB, 400733SW, 401377MA, 400793BR, 401448BJ, 401726LW, 401691HA, 400870KC, 401813DN, 402054BD, 401443JK, 400014SL, 401919MD, 402074RR, 401795SP, 400721DJ, 401334DH, 400728PB, 401608GE, 401365DJ, 400845ML, 401413RG, 400769SL, 401056TJ, 401372RR, 401358VP, 400106PC, 400108BJ, 400084DM, 401836SI, 400300SD, 400243CK, 401395OP, 400982BS
Known GenesBMPR1B
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)dgv1514e212
Frequency
Sample Size873
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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