A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573684



Internal ID18701882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:25702214..25729310hg38UCSC Ensembl
InnerchrX:25720331..25747427hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3827097
hg1927097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2241e212
Supporting Variantsessv9824458, essv9824441, essv9824437, essv9824426, essv9824463, essv9824459, essv9824425, essv9824436, essv9824431, essv9824435, essv9824429, essv9824420, essv9824433, essv9824446, essv9824448, essv9824439, essv9824443, essv9824451, essv9824444, essv9824455, essv9824466, essv9824453, essv9824440, essv9824464, essv9824454, essv9824457, essv9824452, essv9824465, essv9824424, essv9824442, essv9824468, essv9824438, essv9824427, essv9824449, essv9824419, essv9824430, essv9824428, essv9824447, essv9824460, essv9824450, essv9824462, essv9824461, essv9824432
Samples401020DJ, 401110GJ, 401212HJ, 401986LC, 400101EH, 400683EC, 400855BD, 401258PC, 401538NS, 400368SD, 400121PL, 400032RC, 400385LJ, 400564SN, 400729HC, 400442FE, 400738WM, 400533BB, 400791GC, 401617KM, 400977SC, 400960TN, 400496BL, 400093BL, 4000657TM, 401311GL, 400547BS, 400978JG, 401011PJ, 400329HJ, 400818BL, 400458LS, 400053LE, 402060PD, 400128MJ, 401314MK, 400971MK, 400930MK, 401266HM, 400084DM, 401177SL, 401153HS, 400269DA
Known Genes
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)esv3573684
Frequency
Sample Size873
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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