A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1977e212



Internal ID22784904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143123700..143202300hg38UCSC Ensembl
chr7:142820793..142899393hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3878601
hg1978601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572223, esv3572221, esv3572214, esv3572215, esv3572216, esv3572217, esv3572220, esv3572222, esv3572218
Samples401146US, 400101EH, 401742KB, 401966SR, 401783BD, 400834SS, 400893ZE, 401297KC, 400348DK, 401303FM, 401505WI, 401834CB, 401863BD, 400265LK, 400242TP, 401176BD, 401428LD, 400158FB, 401438HT, 400312CR, 400150SS, 401341TS
Known GenesPIP, TAS2R39
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)dgv1977e212
Frequency
Sample Size873
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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