A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578970



Internal ID18707168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:69515725..69532618hg38UCSC Ensembl
Innerchr10:71275481..71292374hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3816894
hg1916894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9793945, essv9793947, essv9793948, essv9793952, essv9793951, essv9793946, essv9793949, essv9793950, essv9793943, essv9793954, essv9793942, essv9793953
Samples400821FE, 400347VJ, 400360SM, 401263HS, 400203NA, 400478WE, 401997HB, 401377MA, 401655DC, 400977SC, 401762SD, 401395OP
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)esv3578970
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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