A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1709e212



Internal ID20150165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6132203..6147984hg38UCSC Ensembl
chr6:6132436..6148217hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3815782
hg1915782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570743, esv3570745, esv3570746, esv3570744, esv3570747
Samples401465TB, 400984LD, 400204SC, 400268SY, 400554WB, 400889CM, 400101EH, 400622SJ, 400797ST, 400298ME, 400627CC, 401495NR, 400717BD, 400109LJ, 401357MH, 400381CA, 401952UH, 401311GL, 401075MN, 400639RP, 400246MG, 401881TJ, 401010HT, 401571SD, 400971MK, 400859SC, 400833BB
Known GenesF13A1
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)dgv1709e212
Frequency
Sample Size873
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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