A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1005e212



Internal ID20149461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77238951..77255913hg38UCSC Ensembl
chr18:74950907..74967869hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3816963
hg1916963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583166, esv3583164, esv3583167
Samples400287BP, 400987FB, 401355CD, 402016HZ, 401792KR, 401766MR, 400352CA, 400533BB, 400171BJ, 400518MS, 401268PS, 400069CN, 401149VA, 400205SP, 400271SR
Known GenesGALR1
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)dgv1005e212
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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