A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581307



Internal ID18709505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73765564..73778904hg38UCSC Ensembl
Innerchr14:74232267..74245607hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3813341
hg1913341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9806847, essv9806852, essv9806851, essv9806853, essv9806856, essv9806848, essv9806850, essv9806849, essv9806854
Samples400880TM, 401146US, 400438DB, 400427SD, 400265LK, 400818BL, 401266HM, 400833BB, 400291VJ
Known GenesELMSAN1
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)esv3581307
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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