A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571804



Internal ID18700002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39360053..39365143hg38UCSC Ensembl
Innerchr7:39399652..39404742hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385091
hg195091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9783459, essv9783461, essv9783458, essv9783462, essv9783465, essv9783460, essv9783463, essv9783464
Samples401842BJ, 400203NA, 400341GL, 400113LD, 400837HN, 401315HK, 402073LQ, 400785AK
Known GenesPOU6F2
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)esv3571804
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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