A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv919e212



Internal ID20149375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41039612..41066554hg38UCSC Ensembl
chr17:39195864..39222806hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3826943
hg1926943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582642, esv3582651, esv3582643
Samples400984LD, 402056KD, 400270BD, 401623SN, 400496BL, 401419SW, 401762SD, 400800MW, 401504RJ, 401914PR, 401571SD, 401681MS, 400782IE
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)dgv919e212
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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