A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009865



Internal ID9987421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189645889..189646849hg38UCSC Ensembl
Innerchr3:189363678..189364638hg19UCSC Ensembl
Innerchr3:190846372..190847332hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38961
hg19961
hg18961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760784
Supporting Variants
SamplesRW_0067
Known GenesTP63
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)essv7009865
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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