A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028578



Internal ID10025543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3982817..4194719hg38UCSC Ensembl
Innerchr4:3984544..4196446hg19UCSC Ensembl
Innerchr4:4035442..4247347hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38211903
hg19211903
hg18211906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763838
Supporting Variants
SamplesSW_1436
Known GenesOTOP1
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)essv7028578
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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