A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1965e212



Internal ID20150421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:136872668..136879113hg38UCSC Ensembl
chr7:136557415..136563860hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg386446
hg196446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572157, esv3572161
Samples400377WJ, 400825TW, 401617KM, 400285FA, 401086MD, 400319HT, 400474GF, 400722OM, 402023EC, 401153HS
Known GenesCHRM2
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)dgv1965e212
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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