A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763720



Internal ID10377756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:43509546..43534392hg38UCSC Ensembl
Innerchr3:43551038..43575884hg19UCSC Ensembl
Innerchr3:43526042..43550888hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3824847
hg1924847
hg1824847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027085, essv7027084
SamplesSW_1468, SW_1482
Known GenesANO10
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)esv2763720
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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