A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579503



Internal ID18707701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:47031062..47043218hg38UCSC Ensembl
Innerchr11:47052613..47064769hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3812157
hg1912157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9796956, essv9796943, essv9796946, essv9796954, essv9796961, essv9796952, essv9796951, essv9796958, essv9796940, essv9796937, essv9796947, essv9796950, essv9796949, essv9796934, essv9796936, essv9796941, essv9796962, essv9796963, essv9796935, essv9796932, essv9796945, essv9796939, essv9796948, essv9796938, essv9796942, essv9796953, essv9796960, essv9796959, essv9796957, essv9796931
Samples400926LJ, 400622SJ, 400068PW, 400453LN, 401792KR, 400609FJ, 400478WE, 400107MJ, 401013GJ, 400763BT, 401939GD, 401834CB, 401930GD, 401630MK, 401075MN, 402054BD, 401087SF, 400639RP, 400598DA, 400999HR, 400818BL, 401595BL, 401496SL, 400053LE, 400069CN, 400267GD, 401152MV, 401912HD, 400108BJ, 400300SD
Known GenesC11orf49
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)esv3579503
Frequency
Sample Size873
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer