A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv886e212



Internal ID22783813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7733797..7746036hg38UCSC Ensembl
chr17:7637115..7649354hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3812240
hg1912240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582510, esv3582511, esv3582512
Samples400364SS, 400439IM, 401275SJ, 400429YF, 401966SR, 400629BM, 401556KR, 400425SL, 400227MM, 401263HS, 401239PR, 402065BG, 400478WE, 401791FG, 400002HK, 401873BK, 401589HP, 401278DM, 400043HC, 401825TH, 401930GD, 400123WN, 400006DK, 401200BD, 400136DM, 401057SS, 400732MA, 401763SG, 400525MR, 401969DR, 400300SD, 400243CK
Known GenesDNAH2
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)dgv886e212
Frequency
Sample Size873
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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