A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2006e212



Internal ID20150462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:155263503..155290368hg38UCSC Ensembl
chr7:155055213..155082078hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3826866
hg1926866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572339, esv3572338
Samples401437MJ, 400110MD, 401230NL, 400249BC, 401778CB
Known Genes
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)dgv2006e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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