A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011792



Internal ID10344244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:134340708..134560853hg38UCSC Ensembl
Innerchr4:135261863..135482008hg19UCSC Ensembl
Innerchr4:135481313..135701458hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38220146
hg19220146
hg18220146
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762463
Supporting Variants
SamplesRW_0330
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)essv7011792
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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