A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577684



Internal ID18359196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1690335..1741152hg38UCSC Ensembl
Innerchr1:1621774..1672591hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3850818
hg1950818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3e212
Supporting Variantsessv9816643, essv9817754, essv9815532, essv9821087, essv9822199, essv9818865, essv9825532, essv9819976, essv9814421, essv9823310, essv9824421
Samples400439IM, 401005BL, 401841OB, 401096SL, 401979TB, 401414CR, 400156WT, 402042BJ, 400178RH, 401612HB, 401395OP
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2, SLC35E2B
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)esv3577684
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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