A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1992e212



Internal ID19009200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148285568..148291171hg38UCSC Ensembl
chr7:147982660..147988263hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg385604
hg195604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572285, esv3572284
Samples401580CA, 400908PJ, 401318AV, 401104DM, 400501SJ, 400609FJ, 400047DS, 400579HJ, 400661AD, 401419SW, 400270BD, 401968HL, 400082SD, 401410BJ, 401859GS, 400449PK, 400209BS, 401728WK
Known GenesCNTNAP2, MIR548T
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)dgv1992e212
Frequency
Sample Size873
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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