A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571858



Internal ID18700056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54161014..54173307hg38UCSC Ensembl
Innerchr7:54228707..54241000hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3812294
hg1912294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9783881, essv9783884, essv9783880, essv9783883, essv9783882, essv9783885
Samples400730SH, 400897MD, 400844GP, 400639RP, 400130HA, 400923OA
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)esv3571858
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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