A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575662



Internal ID18703860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:976838..986842hg38UCSC Ensembl
Innerchr4:970626..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 Variantsdgv1450e212
Supporting Variantsessv9769519, essv9769499, essv9769502, essv9769506, essv9769520, essv9769525, essv9769526, essv9769517, essv9769523, essv9769539, essv9769498, essv9769529, essv9769542, essv9769536, essv9769512, essv9769530, essv9769531, essv9769514, essv9769503, essv9769528, essv9769509, essv9769543, essv9769540, essv9769518, essv9769508, essv9769507, essv9769505, essv9769497, essv9769541, essv9769535, essv9769538, essv9769504, essv9769510, essv9769537, essv9769521, essv9769515, essv9769513, essv9769501, essv9769524, essv9769532, essv9769516, essv9769544, essv9769527
Samples400316SL, 400075MR, 400926LJ, 400534ME, 400377WJ, 401956DQ, 400294HD, 400970VE, 400866RR, 401856GC, 400834SS, 400493KH, 401190WC, 401173AI, 400606HW, 400503HD, 400688FL, 400148MS, 400032RC, 401994BD, 400478WE, 400733SW, 400416KA, 400870KC, 400791GC, 401026AM, 401084BD, 400724CD, 401942MP, 400171BJ, 401075MN, 400249BC, 400603CJ, 400278PD, 400598DA, 400177CG, 400818BL, 400671PP, 400458LS, 401958MF, 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)esv3575662
Frequency
Sample Size873
Observed Gain43
Observed Loss0
Observed Complex0
Frequencyn/a


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