A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573330



Internal ID18701528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46110126..46215310hg38UCSC Ensembl
Innerchr17:44187492..44292676hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38105185
hg19105185
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv938e212
Supporting Variantsessv9814232, essv9814229, essv9814236, essv9814231, essv9814227, essv9814240, essv9814225, essv9814230, essv9814226, essv9814237, essv9814235, essv9814228, essv9814238, essv9814234, essv9814221, essv9814220, essv9814224, essv9814239, essv9814223
Samples400316SL, 401275SJ, 400834SS, 400897MD, 401190WC, 400523GB, 400131CM, 402062KR, 402028BD, 401842BJ, 401538NS, 400198MD, 400302HW, 401652HL, 401067BD, 401894PD, 400586RD, 400996MC, 401152MV
Known GenesKANSL1, KANSL1-AS1
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)esv3573330
Frequency
Sample Size873
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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