A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581739



Internal ID18709937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:61874523..61878148hg38UCSC Ensembl
Innerchr15:62166722..62170347hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg383626
hg193626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv744e212
Supporting Variantsessv9808803, essv9808798, essv9808800, essv9808804, essv9808802, essv9808805, essv9808801
Samples400145BL, 400606HW, 401780BB, 401979TB, 400788PV, 401361GG, 400525MR
Known GenesVPS13C
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)esv3581739
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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