A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1450e212



Internal ID22784377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:976838..986842hg38UCSC Ensembl
chr4:970626..980630hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3810005
hg1910005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575664, esv3575666, esv3575663, esv3575662, esv3575668, esv3575665
Samples400316SL, 400075MR, 400926LJ, 400534ME, 400377WJ, 401956DQ, 400294HD, 400970VE, 400866RR, 401427CB, 401856GC, 400834SS, 400493KH, 400937OR, 401190WC, 401173AI, 400606HW, 401842BJ, 400503HD, 400688FL, 400148MS, 401831TW, 400032RC, 401994BD, 400478WE, 400733SW, 400929MM, 400416KA, 400870KC, 400791GC, 401026AM, 400967PK, 400758KP, 400082SD, 401084BD, 400724CD, 401942MP, 400171BJ, 401075MN, 400249BC, 400603CJ, 400242TP, 400278PD, 400598DA, 400177CG, 400818BL, 400671PP, 400732MA, 400458LS, 401958MF, 401894PD, 401054VM, 401358VP, 400238BB
Known GenesSLC26A1
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)dgv1450e212
Frequency
Sample Size873
Observed Gain54
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer