A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027801



Internal ID10026039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:46892860..47163102hg38UCSC Ensembl
Innerchr1:47358532..47628774hg19UCSC Ensembl
Innerchr1:47131119..47401361hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38270243
hg19270243
hg18270243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763300
Supporting Variants
SamplesSW_1456
Known GenesCYP4A11, CYP4A22, CYP4X1, CYP4Z1, CYP4Z2P
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7027801
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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