A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1107e212



Internal ID22784034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29240554..29251777hg38UCSC Ensembl
chr2:29463420..29474643hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3811224
hg1911224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583697, esv3583698
Samples400287BP, 401734PG, 401911FL, 401672FD, 401346FJ, 400278PD, 401940SJ, 402009WP, 400295PS, 401215MJ, 401932GN, 401969DR
Known GenesALK
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)dgv1107e212
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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