A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003301



Internal ID10011632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186577969..186634805hg38UCSC Ensembl
Innerchr1:186547101..186603937hg19UCSC Ensembl
Innerchr1:184813724..184870560hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3856837
hg1956837
hg1856837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762854
Supporting Variants
SamplesSW_0647
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)essv7003301
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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