A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1927e212



Internal ID22784854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75728009..75746591hg38UCSC Ensembl
chr7:75357327..75375909hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3818583
hg1918583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571923, esv3571924
Samples401698SB, 401093VL, 401526WB
Known GenesHIP1
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)dgv1927e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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