A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2129e212



Internal ID22785056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:7472661..7479794hg38UCSC Ensembl
chr9:7472661..7479794hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg387134
hg197134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573107, esv3573106
Samples401852SK, 401146US, 400132HN, 401592NR, 400683EC, 401927SK, 400553PP, 401857VG, 400191MP, 400523GB, 401258PC, 401792KR, 401869BG, 401746WW, 401773AM, 400218WK, 401013GJ, 402033WD, 400123WN, 401067BD, 401182OC, 400177CG, 400454RE, 400458LS, 400103BN, 401861GG, 400996MC, 401056TJ, 401372RR, 400785AK, 400833BB, 401993HM, 401066MM, 400942HR
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)dgv2129e212
Frequency
Sample Size873
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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