A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574325



Internal ID18702523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:115935560..115945579hg38UCSC Ensembl
InnerchrX:115051893..115061912hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3810020
hg1910020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2366e212
Supporting Variantsessv9828437, essv9828483, essv9828438, essv9828441, essv9828485, essv9828451, essv9828479, essv9828443, essv9828475, essv9828456, essv9828467, essv9828471, essv9828450, essv9828459, essv9828458, essv9828445, essv9828480, essv9828472, essv9828481, essv9828440, essv9828463, essv9828447, essv9828476, essv9828453, essv9828442, essv9828448
Samples400701MM, 400204SC, 400114GR, 401151RJ, 401434VN, 400620MT, 400245SJ, 401975VD, 400066MA, 401908YM, 400773GS, 401566DD, 400282RA, 401834CB, 401736BF, 401652HL, 400524NJ, 400518MS, 401391PJ, 400451kh, 400376SJ, 401012TP, 402060PD, 401314MK, 401215MJ, 401882CR
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)esv3574325
Frequency
Sample Size873
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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