A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760150



Internal ID10027513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48033461..48154966hg38UCSC Ensembl
Innerchr10:49241479..49363009hg19UCSC Ensembl
Innerchr10:48911485..49033015hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38121506
hg19121531
hg18121531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12e203
Supporting Variantsessv7018503, essv7018504
SamplesRW_0173, RW_0632
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)esv2760150
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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