A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570744



Internal ID18352256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:6133201..6147984hg38UCSC Ensembl
Innerchr6:6133434..6148217hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3814784
hg1914784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1709e212
Supporting Variantsessv9778054, essv9778055, essv9778049, essv9778051, essv9778061, essv9778062, essv9778052, essv9778060, essv9778066, essv9778065, essv9778057, essv9778059, essv9778063, essv9778064, essv9778050, essv9778058, essv9778048, essv9778053
Samples401465TB, 400204SC, 400554WB, 400889CM, 400101EH, 400797ST, 400627CC, 401495NR, 400717BD, 400109LJ, 400381CA, 401952UH, 400639RP, 401881TJ, 401010HT, 401571SD, 400971MK, 400859SC
Known GenesF13A1
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)esv3570744
Frequency
Sample Size873
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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