A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761294



Internal ID10028656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104048899..104090136hg38UCSC Ensembl
Innerchr9:106811180..106852417hg19UCSC Ensembl
Innerchr9:105851001..105892238hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3841238
hg1941238
hg1841238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017960, essv7017959
SamplesRW_0152, RW_0270
Known GenesMIR6130
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)esv2761294
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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