A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760398



Internal ID10376706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:59916459..59951335hg38UCSC Ensembl
Innerchr15:60208658..60243534hg19UCSC Ensembl
Innerchr15:57995950..58030826hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3834877
hg1934877
hg1834877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023345, essv7023343, essv7023346
SamplesRW_0505, RW_0045, RW_0079
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)esv2760398
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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