A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009749



Internal ID10350919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165548290..165578744hg38UCSC Ensembl
Innerchr3:165266078..165296532hg19UCSC Ensembl
Innerchr3:166748772..166779226hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3830455
hg1930455
hg1830455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760808
Supporting Variants
SamplesRW_0655
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)essv7009749
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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