A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763599



Internal ID10376279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:79374615..79429074hg38UCSC Ensembl
Innerchr2:79601741..79656200hg19UCSC Ensembl
Innerchr2:79455249..79509708hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3854460
hg1954460
hg1854460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014989, essv7014978, essv7014967
SamplesSW_0089, SW_0632, SW_1279
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)esv2763599
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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