A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762367



Internal ID10029717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:175268370..175286432hg38UCSC Ensembl
Innerchr3:174986159..175004221hg19UCSC Ensembl
Innerchr3:176468853..176486915hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3818063
hg1918063
hg1818063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009827
SamplesRW_0263
Known GenesNAALADL2
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)esv2762367
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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