A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579157



Internal ID18707355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122598665..122622514hg38UCSC Ensembl
Innerchr10:124358181..124382030hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3823850
hg1923850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv299e212
Supporting Variantsessv9795161, essv9795148, essv9795153, essv9795154, essv9795150, essv9795151, essv9795152, essv9795159, essv9795162, essv9795158, essv9795160, essv9795157, essv9795156, essv9795149, essv9795147
Samples401734PG, 400553PP, 400340CD, 400836LK, 400478WE, 400107MJ, 401762SD, 400047DS, 400520FM, 401496SL, 400103BN, 401054VM, 401240ML, 400540BM, 400890IT
Known GenesDMBT1
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)esv3579157
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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