A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582045



Internal ID18363557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15805090..15808301hg38UCSC Ensembl
Innerchr16:15898947..15902158hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg383212
hg193212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv796e212
Supporting Variantsessv9810075, essv9810095, essv9810094, essv9810071, essv9810079, essv9810084, essv9810085, essv9810091, essv9810068, essv9810073, essv9810087, essv9810065, essv9810092, essv9810069, essv9810083, essv9810072, essv9810070, essv9810093, essv9810076, essv9810086, essv9810081, essv9810067, essv9810080, essv9810078, essv9810074, essv9810090, essv9810082
Samples400132HN, 401403TD, 400897MD, 401426WD, 400528LR, 400588BE, 400134WK, 400526DR, 401566DD, 401155ML, 401646MC, 401353BC, 400763BT, 401864CV, 401262RR, 401017SC, 401889FR, 400444MM, 401334DH, 400818BL, 401496SL, 401608GE, 401438HT, 400106PC, 401735LE, 400164SS, 400021ME
Known GenesMYH11
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)esv3582045
Frequency
Sample Size873
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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