A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020955



Internal ID10368782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183074445..183098505hg38UCSC Ensembl
Innerchr2:183939173..183963233hg19UCSC Ensembl
Innerchr2:183647418..183671478hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3824061
hg1924061
hg1824061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763287
Supporting Variants
SamplesSW_1282
Known GenesDUSP19
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)essv7020955
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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