A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573680



Internal ID18355192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:24487194..24494380hg38UCSC Ensembl
InnerchrX:24505311..24512497hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg387187
hg197187
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2240e212
Supporting Variantsessv9824413, essv9824395, essv9824400, essv9824384, essv9824391, essv9824371, essv9824367, essv9824381, essv9824385, essv9824403, essv9824376, essv9824369, essv9824361, essv9824409, essv9824398, essv9824372, essv9824390, essv9824383, essv9824375, essv9824374, essv9824412, essv9824386, essv9824393, essv9824411, essv9824408, essv9824404, essv9824363, essv9824405, essv9824380, essv9824360, essv9824387, essv9824394, essv9824406, essv9824379, essv9824407, essv9824362, essv9824396, essv9824378, essv9824397, essv9824392, essv9824389, essv9824364, essv9824370, essv9824402, essv9824373, essv9824368, essv9824365, essv9824401, essv9824382
Samples400920MK, 400105BB, 401077VC, 400889CM, 400970VE, 400574MA, 401330RR, 401733CG, 401093VL, 401603HH, 400937OR, 400486LS, 400675HC, 400227MM, 400460DM, 401832MC, 400368SD, 400356MC, 401766MR, 400113LD, 400270BD, 401377MA, 400577MK, 400791GC, 401736BF, 401630MK, 401017SC, 401443JK, 400249BC, 400211BJ, 401067BD, 400978JG, 400869BK, 401919MD, 401587RC, 401702GB, 40050SB, 400474GF, 400881GS, 401881TJ, 400295PS, 400069CN, 401894PD, 401763SG, 401728WK, 401153HS, 400581VJ, 401341TS, 401576WC
Known GenesPDK3
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)esv3573680
Frequency
Sample Size873
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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