A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573588



Internal ID18701786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:12924602..12934929hg38UCSC Ensembl
InnerchrX:12942721..12953048hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3810328
hg1910328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2223e212
Supporting Variantsessv9823562, essv9823560, essv9823563, essv9823570, essv9823564, essv9823568, essv9823561, essv9823565, essv9823569, essv9823566
Samples400145BL, 400984LD, 401518VK, 400438DB, 400227MM, 401006ES, 401594MP, 401822TL, 400014SL, 400728PB
Known GenesTLR8-AS1
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)esv3573588
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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