A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1878e212



Internal ID22784805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29624924..29648536hg38UCSC Ensembl
chr7:29664540..29688152hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3823613
hg1923613
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571719, esv3571718, esv3571721
Samples400268SY, 401415CB, 401117NA, 400272AE, 400523GB, 400022WA, 401393JW, 401736BF, 401812HG, 401912HD, 400209BS, 400164SS
Known GenesLOC646762
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)dgv1878e212
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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