A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572565



Internal ID18700763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36097969..36150098hg38UCSC Ensembl
Innerchr17:34425363..34477480hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3852130
hg1952118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv908e212
Supporting Variantsessv9813009, essv9813027, essv9813004, essv9813014, essv9813029, essv9813028, essv9813013, essv9813024, essv9813016, essv9813007, essv9813018, essv9812999, essv9813034, essv9813019, essv9813020, essv9813002, essv9813008, essv9813023, essv9813001, essv9813005, essv9813026, essv9813030, essv9813031, essv9813032, essv9813025, essv9813017, essv9813010, essv9813003, essv9813015, essv9813012, essv9813021, essv9813006
Samples401806DL, 400424LN, 400204SC, 401212HJ, 400821FE, 400554WB, 400101EH, 401487FW, 400683EC, 400131CM, 401906DT, 400298ME, 400827MM, 400743LS, 401908YM, 401401BA, 401672FD, 400729HC, 400107MJ, 401353BC, 401026AM, 400265LK, 401943KA, 401812HG, 401940SJ, 401307VR, 401874DJ, 400135DR, 401922MW, 400168HC, 401809FU, 400150SS
Known GenesCCL4
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)esv3572565
Frequency
Sample Size873
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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