A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762191



Internal ID10029541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246383134..246651762hg38UCSC Ensembl
Innerchr1:246546436..246815064hg19UCSC Ensembl
Innerchr1:244613059..244881687hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38268629
hg19268629
hg18268629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006378
SamplesSW_1163
Known GenesCNST, LOC255654, SMYD3, TFB2M
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)esv2762191
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