A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571014



Internal ID18699212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:37035583..37049180hg38UCSC Ensembl
Innerchr6:37003359..37016956hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3813598
hg1913598
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1762e212
Supporting Variantsessv9779133, essv9779132, essv9779136, essv9779141, essv9779142, essv9779137, essv9779138, essv9779135, essv9779140, essv9779139
Samples401190WC, 400882DD, 400783MJ, 401506LK, 401025SM, 400677HD, 400811SK, 400719TM, 401612HB, 401993HM
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)esv3571014
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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