A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764093



Internal ID10378129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16092468..16167255hg38UCSC Ensembl
Innerchr8:15949977..16024764hg19UCSC Ensembl
Innerchr8:15994348..16069135hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3874788
hg1974788
hg1874788
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992763, essv6992761, essv6992762, essv6992764, essv6992760
SamplesSW_1199, SW_1348, SW_0116, SW_1153, SW_1318
Known GenesMSR1
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)esv2764093
Frequency
Sample Size1109
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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