A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1890e212



Internal ID20150346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38252947..38347419hg38UCSC Ensembl
chr7:38292548..38387020hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3894473
hg1994473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571762, esv3571767, esv3571766, esv3571751, esv3571771, esv3571770, esv3571765, esv3571791, esv3571792, esv3571752
Samples400308SP, 400569WC, 402012RR, 401838EN, 402029KJ, 400582WS, 401376RD, 401175FA, 400240HJ, 401011PJ, 401307VR, 401359HF, 400103BN
Known GenesTARP, TRG-AS1
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)dgv1890e212
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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