A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584270



Internal ID18365782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:200727112..200739900hg38UCSC Ensembl
Innerchr2:201591835..201604623hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3812789
hg1912789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9836504, essv9836501, essv9836505, essv9836507, essv9836506, essv9836502, essv9836503
Samples400134WK, 400231LP, 400663MD, 400768MN, 401478RD, 401517PR, 400645KM
Known GenesAOX2P, LOC100507140
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)esv3584270
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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