A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572229



Internal ID18700427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146300389..146304253hg38UCSC Ensembl
Innerchr7:145997481..146001345hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg383865
hg193865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1980e212
Supporting Variantsessv9785610, essv9785613, essv9785617, essv9785614, essv9785624, essv9785618, essv9785612, essv9785621, essv9785620, essv9785616, essv9785619, essv9785623, essv9785615
Samples401465TB, 400574MA, 401403TD, 400558BL, 400882DD, 401773AM, 400041LJ, 401437MJ, 400724CD, 4000657TM, 400006DK, 401535RJ, 401576WC
Known GenesCNTNAP2
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)esv3572229
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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