A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763215



Internal ID10375895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:7798131..7940707hg38UCSC Ensembl
Innerchr3:7839818..7982394hg19UCSC Ensembl
Innerchr3:7814818..7957394hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38142577
hg19142577
hg18142577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026133
SamplesSW_0073
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)esv2763215
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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