A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1866e212



Internal ID20150322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6791054..6827434hg38UCSC Ensembl
chr7:6830685..6867065hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3836381
hg1936381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571602, esv3571593, esv3571595, esv3571611, esv3571606, esv3571600, esv3571599
Samples400724CD, 400683EC, 400641WJ, 400076LC, 400211BJ, 401636WR, 401986LC, 401210PB, 401612HB, 400336BG, 401690HA, 400811SK, 402064DC, 401420PJ, 401732HW, 401623SN, 401536BD, 401859GS, 401235IA, 401882CR, 401190WC, 400468OB, 401879HJ, 401019MP, 401620BA, 401369GR
Known GenesCCZ1B, RSPH10B, RSPH10B2
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)dgv1866e212
Frequency
Sample Size873
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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