A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028605



Internal ID10005514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9383120..9403314hg38UCSC Ensembl
Innerchr4:9384846..9405040hg19UCSC Ensembl
Innerchr4:8993944..9014138hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3820195
hg1920195
hg1820195
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763860
Supporting Variants
SamplesSW_0032
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)essv7028605
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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