A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763287



Internal ID10030637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183074445..183173165hg38UCSC Ensembl
Innerchr2:183939173..184037893hg19UCSC Ensembl
Innerchr2:183647418..183746138hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3898721
hg1998721
hg1898721
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020967, essv7020955
SamplesSW_1282, SW_1028
Known GenesDUSP19, NUP35
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)esv2763287
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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