A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1713e212



Internal ID22784640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14623693..14638157hg38UCSC Ensembl
chr6:14623924..14638388hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3814465
hg1914465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570778, esv3570776
Samples400287BP, 401020DJ, 401110GJ, 400424LN, 400984LD, 400204SC, 401468RL, 401500OM, 400241CP, 400871CM, 400348DK, 401155ML, 401027KW, 400914ER, 400082SD, 400278PD, 401359HF, 400451kh, 400624RJ, 401012TP, 400586RD, 400091BS
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)dgv1713e212
Frequency
Sample Size873
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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