A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763510



Internal ID10376190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55095759..55103214hg38UCSC Ensembl
Innerchr2:55322895..55330350hg19UCSC Ensembl
Innerchr2:55176399..55183854hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg387456
hg197456
hg187456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv82e203
Supporting Variantsessv7014423, essv7014434
SamplesSW_1028, SW_0244
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)esv2763510
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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