A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1842e212



Internal ID20150298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151913190..151917763hg38UCSC Ensembl
chr6:152234325..152238898hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg384574
hg194574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571472, esv3571473, esv3571469
Samples400277LM, 400653GP, 400012CJ, 400083TG
Known GenesESR1
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)dgv1842e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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