A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760745



Internal ID10377052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:84159213..84734108hg38UCSC Ensembl
Innerchr3:84208364..84783259hg19UCSC Ensembl
Innerchr3:84291054..84865949hg18UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38574896
hg19574896
hg18574896
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009219, essv7009217, essv7009216, essv7009218
SamplesRW_0178, RW_0575, RW_0197, RW_0621
Known GenesLINC00971
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)esv2760745
Frequency
Sample Size1109
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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