A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763199



Internal ID10375879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:139954430..140022375hg38UCSC Ensembl
Innerchr2:140711999..140779944hg19UCSC Ensembl
Innerchr2:140428469..140496414hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3867946
hg1967946
hg1867946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018355, essv7018377, essv7018366
SamplesSW_1406, SW_0072, SW_1187
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)esv2763199
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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