A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1867e212



Internal ID20150323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6797362..6815126hg38UCSC Ensembl
chr7:6836993..6854757hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3817765
hg1917765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571592, esv3571607, esv3571597, esv3571608, esv3571610, esv3571594
Samples400599CP, 401852SK, 400340CD, 400509CJ, 400493KH, 401538NS, 400307HW, 400817MB, 400579HJ, 400442FE, 400302HW, 401274PA, 400040CN, 401950MD, 401519SA, 400543CK, 400829MR, 401563TK, 400249BC, 401011PJ, 401112LG, 401514BA, 401881TJ, 402051AF, 401693RC, 400759FV, 400586RD, 400312CR, 400778SR, 401912HD, 400835FD, 400261RN, 400138LA, 400704LC, 400269DA
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)dgv1867e212
Frequency
Sample Size873
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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