A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572157



Internal ID18353669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:136872668..136878731hg38UCSC Ensembl
Innerchr7:136557415..136563478hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg386064
hg196064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1965e212
Supporting Variantsessv9785098, essv9785097, essv9785094, essv9785095, essv9785092, essv9785093, essv9785096, essv9785099, essv9785101
Samples400377WJ, 400825TW, 401617KM, 400285FA, 401086MD, 400319HT, 400474GF, 400722OM, 402023EC
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)esv3572157
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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