A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574313



Internal ID18702511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:112842730..112845533hg38UCSC Ensembl
InnerchrX:112085958..112088761hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg382804
hg192804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9828347, essv9828337, essv9828339, essv9828348, essv9828346, essv9828341, essv9828340, essv9828345, essv9828343, essv9828342, essv9828338, essv9828349, essv9828336, essv9828335, essv9828350
Samples401299ST, 401536BD, 402056KD, 400763BT, 401714BM, 400285FA, 401026AM, 401606CG, 400361HC, 400362TV, 401315HK, 401861GG, 400778SR, 401458RT, 401836SI
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)esv3574313
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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