A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv139e212



Internal ID20148595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207518787..207575509hg38UCSC Ensembl
chr1:207692132..207748854hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3856723
hg1956723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575505, esv3575494, esv3575584, esv3575571, esv3575549, esv3575527, esv3575560, esv3575483, esv3575516, esv3575538
Samples400926LJ, 400094RS, 400337HG, 401762SD, 400050RL, 400248JO, 401182OC, 400136DM, 400458LS, 400645KM
Known GenesCR1
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)dgv139e212
Frequency
Sample Size873
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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