A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574071



Internal ID18702269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:77109956..77158181hg38UCSC Ensembl
InnerchrX:76330367..76378644hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3848226
hg1948278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2310e212
Supporting Variantsessv9826453, essv9826454, essv9826436, essv9826445, essv9826446, essv9826456, essv9826447, essv9826449, essv9826441, essv9826452, essv9826434, essv9826442, essv9826443, essv9826450, essv9826438, essv9826440, essv9826439, essv9826435, essv9826437, essv9826448
Samples400599CP, 401005BL, 40031BA, 401603HH, 401536BD, 400937OR, 400131CM, 400871CM, 400356MC, 400413FJ, 400791GC, 400070PC, 400093BL, 400381CA, 400458LS, 401166WJ, 400719TM, 401817MC, 401829FJ, 400923OA
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)esv3574071
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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