A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1635e212



Internal ID22784562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107552097..107557593hg38UCSC Ensembl
chr5:106887798..106893294hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg385497
hg195497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570325, esv3570328
Samples401275SJ, 400506GN, 400155CW, 400341GL, 400729HC, 400282RA, 401347DH, 401594MP, 400371GA, 401391PJ, 401203MP, 401012TP, 400173KP, 401993HM, 401068SD, 401207DA
Known GenesEFNA5
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)dgv1635e212
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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