A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574387



Internal ID18355899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:116454112..116457914hg38UCSC Ensembl
InnerchrX:115585278..115589080hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg383803
hg193803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2380e212
Supporting Variantsessv9829362, essv9829341, essv9829402, essv9829285, essv9829321, essv9829396, essv9829390, essv9829392, essv9829385, essv9829386, essv9829350, essv9829309, essv9829372, essv9829324, essv9829272, essv9829308, essv9829365, essv9829391, essv9829328, essv9829314, essv9829375, essv9829361, essv9829373, essv9829271, essv9829342, essv9829349, essv9829389, essv9829293, essv9829273, essv9829352, essv9829274, essv9829284, essv9829368, essv9829301, essv9829291, essv9829329, essv9829335, essv9829297, essv9829347, essv9829395, essv9829295, essv9829345, essv9829325, essv9829318, essv9829327, essv9829303, essv9829289, essv9829380, essv9829334, essv9829338, essv9829280, essv9829312, essv9829306, essv9829319, essv9829304, essv9829323, essv9829292, essv9829278, essv9829269, essv9829279, essv9829290, essv9829397, essv9829354, essv9829270, essv9829294, essv9829268, essv9829348, essv9829330
Samples400247CL, 401020DJ, 401162TM, 400984LD, 400439IM, 401212HJ, 400534ME, 400268SY, 400821FE, 400876OG, 400101EH, 400512LR, 401460LW, 401117NA, 400077EB, 401093VL, 401820SD, 401603HH, 400199SA, 400934LA, 400937OR, 400347VJ, 401136LB, 400627CC, 401926MR, 401842BJ, 400600DP, 401165SB, 401155ML, 401831TW, 400579HJ, 400270BD, 401691HA, 400955BE, 401913GT, 401185LE, 401618HR, 401879HJ, 400844GP, 400686BM, 401606CG, 401812HG, 400211BJ, 401067BD, 400278PD, 401940SJ, 401259LS, 400378HL, 400177CG, 400444MM, 401334DH, 400818BL, 401016IT, 400845ML, 400156WT, 400863SS, 401894PD, 401438HT, 400328LM, 400044HS, 402073LQ, 400106PC, 401354KM, 400266BA, 400209BS, 400238BB, 400138LA, 400234CA
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)esv3574387
Frequency
Sample Size873
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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