A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582643



Internal ID18364155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41039612..41065355hg38UCSC Ensembl
Innerchr17:39195864..39221607hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3825744
hg1925744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv919e212
Supporting Variantsessv9813352, essv9813348, essv9813347, essv9813350, essv9813344, essv9813351, essv9813349, essv9813346
Samples400984LD, 402056KD, 400270BD, 401623SN, 400496BL, 401762SD, 400800MW, 401914PR
Known GenesKRTAP1-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4
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)esv3582643
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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