A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760741



Internal ID10028103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:993313..998337hg38UCSC Ensembl
Innerchr3:1034997..1040021hg19UCSC Ensembl
Innerchr3:1009997..1015021hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg385025
hg195025
hg185025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008765, essv7008768, essv7008769, essv7008774, essv7008773, essv7008763, essv7008772, essv7008770, essv7008764, essv7008771, essv7008762, essv7008766
SamplesRW_0585, RW_0348, RW_0582, RW_0268, RW_0096, RW_0017, RW_0224, RW_0185, RW_0001, RW_0252, RW_0088, RW_0662
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)esv2760741
Frequency
Sample Size1109
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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