A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760088



Internal ID10376396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:31963270..31989010hg38UCSC Ensembl
Innerchr10:32252198..32277938hg19UCSC Ensembl
Innerchr10:32292204..32317944hg18UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg3825741
hg1925741
hg1825741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018281, essv7018276, essv7018278, essv7018286, essv7018285, essv7018275, essv7018283, essv7018284, essv7018280, essv7018282, essv7018279
SamplesRW_0620, RW_0010, RW_0610, RW_0168, RW_0173, RW_0175, RW_0653, RW_0080, RW_0200, RW_0144, RW_0084
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)esv2760088
Frequency
Sample Size1109
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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