A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764160



Internal ID10031510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:17581424..17636676hg38UCSC Ensembl
Innerchr9:17581422..17636674hg19UCSC Ensembl
Innerchr9:17571422..17626674hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3855253
hg1955253
hg1855253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993654, essv6993652, essv6993653, essv6993655
SamplesSW_0016, SW_1468, SW_0641, SW_0592
Known GenesSH3GL2
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)esv2764160
Frequency
Sample Size1109
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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