A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762428



Internal ID10375226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39584941..39587542hg38UCSC Ensembl
Innerchr4:39586561..39589162hg19UCSC Ensembl
Innerchr4:39262956..39265557hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382602
hg192602
hg182602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010858
SamplesRW_0028
Known GenesSMIM14, UGDH-AS1
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)esv2762428
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer