A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581831



Internal ID18710029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:93910180..93918963hg38UCSC Ensembl
Innerchr15:94453409..94462192hg19UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg388784
hg198784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv758e212
Supporting Variantsessv9809391, essv9809394, essv9809392, essv9809380, essv9809395, essv9809383, essv9809390, essv9809386, essv9809381, essv9809387, essv9809389, essv9809385, essv9809379, essv9809384, essv9809393, essv9809396, essv9809382
Samples401261HD, 400340CD, 401258PC, 402062KR, 401184MM, 400206SC, 402029KJ, 401977ES, 401050GS, 401119DK, 400758KP, 401519SA, 400705KK, 400719TM, 400833BB, 401993HM, 401490TL
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)esv3581831
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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