A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028610



Internal ID10012244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9455251..9527501hg38UCSC Ensembl
Innerchr4:9456977..9529130hg19UCSC Ensembl
Innerchr4:9066075..9138228hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3872251
hg1972154
hg1872154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763860
Supporting Variants
SamplesSW_0691
Known GenesLOC650293
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)essv7028610
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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