A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761556



Internal ID10374354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:117729352..117744029hg38UCSC Ensembl
Innerchr9:120491630..120506307hg19UCSC Ensembl
Innerchr9:119531451..119546128hg18UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg3814678
hg1914678
hg1814678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994365
SamplesSW_0604
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)esv2761556
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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