A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1979e212



Internal ID22784906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146217844..146222311hg38UCSC Ensembl
chr7:145914936..145919403hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384468
hg194468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576473, esv3576475
Samples401799DP, 400424LN, 400618GC, 400377WJ, 401074CM, 400068PW, 400509CJ, 400937OR, 400347VJ, 400827MM, 400022WA, 400663MD, 401251WN, 400758KP, 401475MK, 401506LK, 401087SF, 400278PD, 401369GR, 401203MP, 401898DS, 401608GE, 400246MG, 401054VM, 401571SD, 401861GG, 401143LK, 400508RD, 400581VJ, 401612HB, 400255CD, 400269DA
Known GenesCNTNAP2
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)dgv1979e212
Frequency
Sample Size873
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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