A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv744e212



Internal ID22783671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:61874523..61878842hg38UCSC Ensembl
chr15:62166722..62171041hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg384320
hg194320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581739, esv3581740, esv3581737
Samples400649PS, 400145BL, 401899MB, 400606HW, 401263HS, 401780BB, 401979TB, 400914ER, 400258BC, 401182OC, 400788PV, 401361GG, 400525MR, 400835FD, 401510DG
Known GenesVPS13C
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)dgv744e212
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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