A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584222



Internal ID18712420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183210084..183228710hg38UCSC Ensembl
Innerchr2:184074812..184093438hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3818627
hg1918627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1194e212
Supporting Variantsessv9836126, essv9836144, essv9836146, essv9836135, essv9836139, essv9836148, essv9836125, essv9836140, essv9836137, essv9836149, essv9836141, essv9836130, essv9836129, essv9836128, essv9836138, essv9836142, essv9836131, essv9836145, essv9836127, essv9836151, essv9836153, essv9836133, essv9836150, essv9836152, essv9836147, essv9836136, essv9836134
Samples400926LJ, 400455SJ, 400572PJ, 401355CD, 401780BB, 401818PC, 401773AM, 400929MM, 401900RJ, 400070PC, 401526WB, 401586RS, 400124FR, 401262RR, 400869BK, 400598DA, 401884WJ, 400030WD, 400818BL, 400201PK, 401016IT, 400792RE, 401543DC, 401728WK, 401554VN, 400152MR, 400982BS
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)esv3584222
Frequency
Sample Size873
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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