A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584056



Internal ID18712254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127302342..127310809hg38UCSC Ensembl
Innerchr2:128059918..128068385hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg388468
hg198468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835108, essv9835092, essv9835098, essv9835091, essv9835102, essv9835097, essv9835100, essv9835106, essv9835105, essv9835096, essv9835103, essv9835109, essv9835101, essv9835093, essv9835104, essv9835090, essv9835094, essv9835107, essv9835095
Samples400926LJ, 400737GC, 400094RS, 400083TG, 401845MJ, 400834SS, 400493KH, 400503HD, 401766MR, 400186WC, 400870KC, 401432SB, 400249BC, 400603CJ, 400598DA, 400728PB, 400671PP, 401358VP, 400012CJ
Known GenesMAP3K2
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)esv3584056
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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