A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762917



Internal ID10030267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77248144..77257873hg38UCSC Ensembl
Innerchr11:76959189..76968918hg19UCSC Ensembl
Innerchr11:76636837..76646566hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg389730
hg199730
hg189730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020087
SamplesRW_0050
Known GenesGDPD4
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)esv2762917
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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