A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760757



Internal ID10028119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2334995..2624059hg38UCSC Ensembl
Innerchr3:2376679..2665743hg19UCSC Ensembl
Innerchr3:2351679..2640743hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38289065
hg19289065
hg18289065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008824, essv7008821, essv7008823
SamplesRW_0013, RW_0549, RW_0174
Known GenesCNTN4
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)esv2760757
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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