A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1865e212



Internal ID20150321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6791054..6814467hg38UCSC Ensembl
chr7:6830685..6854098hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3823414
hg1923414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571604, esv3571596
Samples400837HN, 401664SD, 401180GR, 400178RH, 400186WC
Known GenesCCZ1B, RSPH10B, RSPH10B2
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)dgv1865e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer