A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005245



Internal ID10359735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203939357..203953367hg38UCSC Ensembl
Innerchr1:203908485..203922495hg19UCSC Ensembl
Innerchr1:202175108..202189118hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814011
hg1914011
hg1814011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761076
Supporting Variants
SamplesSW_0791
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)essv7005245
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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