A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011836



Internal ID10002761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143794196..143834429hg38UCSC Ensembl
Innerchr4:144715349..144755582hg19UCSC Ensembl
Innerchr4:144934799..144975032hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3840234
hg1940234
hg1840234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760865
Supporting Variants
SamplesRW_0614
Known Genes
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)essv7011836
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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