A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582651



Internal ID18364163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41039612..41064033hg38UCSC Ensembl
Innerchr17:39195864..39220285hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3824422
hg1924422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv919e212
Supporting Variantsessv9813342, essv9813343
Samples401419SW, 401504RJ
Known GenesKRTAP1-1, KRTAP2-1, KRTAP2-2, KRTAP2-3
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)esv3582651
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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