A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576807



Internal ID18358319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31152889..31154861hg38UCSC Ensembl
InnerchrX:31171006..31172978hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg381973
hg191973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2249e212
Supporting Variantsessv9824735, essv9824748, essv9824742, essv9824769, essv9824757, essv9824740, essv9824759, essv9824749, essv9824754, essv9824764, essv9824741, essv9824746, essv9824766, essv9824762, essv9824773, essv9824763, essv9824747, essv9824736, essv9824761, essv9824753, essv9824758, essv9824772, essv9824745, essv9824760, essv9824771, essv9824752, essv9824751, essv9824770, essv9824765, essv9824737, essv9824743, essv9824768, essv9824739, essv9824750, essv9824738
Samples400063BR, 400739SS, 401052BM, 400094RS, 401079HJ, 400141CC, 401733CG, 401368WR, 401030GI, 400558BL, 400245SJ, 401258PC, 401906DT, 401609MB, 400186WC, 401192MJ, 400218WK, 400285FA, 400043HC, 401506LK, 401478RD, 400547BS, 400319HT, 401259LS, 400943DV, 400601WC, 400712GC, 400295PS, 402060PD, 401240ML, 400879DS, 401266HM, 401177SL, 400508RD, 401576WC
Known GenesDMD
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)esv3576807
Frequency
Sample Size873
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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