A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763328



Internal ID10376008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188281749..188293619hg38UCSC Ensembl
Innerchr3:187999537..188011407hg19UCSC Ensembl
Innerchr3:189482231..189494101hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3811871
hg1911871
hg1811871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7028207
SamplesSW_1131
Known GenesLPP
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)esv2763328
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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