A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1006e212



Internal ID20149462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77267736..77271972hg38UCSC Ensembl
chr18:74979692..74983928hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg384237
hg194237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583174, esv3583169, esv3583170, esv3583173
Samples400956AM, 401022ML, 401906DT, 400871CM, 401950MD, 401443JK, 401067BD, 401369GR, 40050SB, 401359HF, 400837HN, 400471YS, 400769SL, 401240ML, 401040KM
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)dgv1006e212
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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