A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578307



Internal ID18706505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:184173634..184184879hg38UCSC Ensembl
Innerchr1:184142768..184154013hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3811246
hg1911246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv124e212
Supporting Variantsessv9799521, essv9799533, essv9799599, essv9799566, essv9799510, essv9799455, essv9799555, essv9799466, essv9799488, essv9799577, essv9799588, essv9799544, essv9799477, essv9799499
Samples401841OB, 401949MN, 402028BD, 400127MD, 400763BT, 401346FJ, 401892MJ, 401874DJ, 400788PV, 400053LE, 400069CN, 402060PD, 400072GR, 401143LK
Known Genes
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)esv3578307
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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