A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575309



Internal ID18703507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:144440450..144446540hg38UCSC Ensembl
Innerchr2:145198017..145204107hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg386091
hg196091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835220, essv9835222, essv9835218, essv9835219, essv9835223
Samples400926LJ, 400866RR, 401856GC, 400688FL, 400238BB
Known GenesZEB2
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)esv3575309
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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