A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569819



Internal ID18351331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:168568537..168575876hg38UCSC Ensembl
Innerchr4:169489688..169497027hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg387340
hg197340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1545e212
Supporting Variantsessv9772994, essv9772986, essv9772971, essv9772993, essv9772968, essv9772985, essv9772980, essv9772983, essv9772995, essv9772974, essv9772998, essv9772970, essv9772976, essv9772991, essv9772997, essv9772973, essv9772975, essv9772969, essv9772984, essv9772979, essv9772981, essv9772982, essv9772990, essv9772988, essv9772996, essv9772992, essv9772972, essv9772987
Samples401005BL, 400821FE, 401956DQ, 401927SK, 400834SS, 400893ZE, 400298ME, 401780BB, 400127MD, 401393JW, 400515ZG, 400977SC, 400838AM, 401125LM, 401210PB, 400093BL, 400265LK, 401942MP, 401262RR, 400201PK, 400542EG, 401287CF, 401861GG, 401543DC, 401817MC, 400508RD, 400261RN, 401517PR
Known GenesPALLD
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)esv3569819
Frequency
Sample Size873
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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