A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2385e212



Internal ID22785312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:116457638..116460923hg38UCSC Ensembl
chrX:115588804..115592090hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg383286
hg193287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577126, esv3577153, esv3577151, esv3577137, esv3577149, esv3577148, esv3577154, esv3577132, esv3577142, esv3577129, esv3577131
Samples400316SL, 400075MR, 401806DL, 401020DJ, 400926LJ, 401852SK, 400534ME, 400802DP, 401146US, 400634MP, 400114GR, 401275SJ, 400737GC, 400377WJ, 401956DQ, 400101EH, 400512LR, 400294HD, 400906BR, 401299ST, 400083TG, 400866RR, 400949AM, 401427CB, 401783BD, 400595CP, 401856GC, 401918CA, 401721CP, 400059SV, 401556KR, 400493KH, 400620MT, 400658BW, 400558BL, 400347VJ, 401136LB, 401990PR, 401634CH, 401173AI, 400669LD, 400606HW, 401842BJ, 400227MM, 400503HD, 400773GS, 400688FL, 401831TW, 400338SR, 401994BD, 400478WE, 400653GP, 400270BD, 400733SW, 400929MM, 400793BR, 401977ES, 400615RI, 400416KA, 400870KC, 400791GC, 400955BE, 400064WJ, 400967PK, 400082SD, 401084BD, 400724CD, 401942MP, 400171BJ, 401812HG, 400886MP, 400249BC, 400603CJ, 400242TP, 400278PD, 401039PA, 400422PN, 400598DA, 400177CG, 400728PB, 400671PP, 400542EG, 400483DP, 400053LE, 400601WC, 400471YS, 401958MF, 401894PD, 401054VM, 400072GR, 400719TM, 401358VP, 400012CJ, 400238BB, 401066MM, 401068SD, 400645KM
Known GenesSLC6A14
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)dgv2385e212
Frequency
Sample Size873
Observed Gain97
Observed Loss0
Observed Complex0
Frequencyn/a


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