A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579220



Internal ID18707418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:126913842..126921585hg38UCSC Ensembl
Innerchr10:128602411..128610154hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg387744
hg197744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv302e212
Supporting Variantsessv9795208, essv9795224, essv9795226, essv9795214, essv9795234, essv9795210, essv9795209, essv9795217, essv9795213, essv9795216, essv9795229, essv9795204, essv9795212, essv9795225, essv9795219, essv9795223, essv9795218, essv9795221, essv9795205, essv9795207, essv9795230, essv9795220, essv9795231, essv9795227, essv9795228, essv9795232, essv9795215, essv9795206
Samples401102RD, 401799DP, 401749DJ, 400145BL, 401465TB, 400336BG, 401415CB, 401427CB, 401674DD, 401355CD, 400486LS, 401495NR, 401175FA, 401594MP, 401119DK, 400960TN, 401526WB, 400381CA, 401326LI, 400124FR, 400006DK, 400371GA, 401203MP, 401428LD, 401314MK, 400044HS, 400108BJ, 400209BS
Known GenesDOCK1
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)esv3579220
Frequency
Sample Size873
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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