A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762887



Internal ID10030237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:129721010..129721364hg38UCSC Ensembl
Innerchr10:131519274..131519628hg19UCSC Ensembl
Innerchr10:131409264..131409618hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38355
hg19355
hg18355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018931
SamplesRW_0590
Known GenesMGMT
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)esv2762887
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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