A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020079



Internal ID10347243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:63046440..63057692hg38UCSC Ensembl
Innerchr11:62813912..62825164hg19UCSC Ensembl
Innerchr11:62570488..62581740hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3811253
hg1911253
hg1811253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762914
Supporting Variants
SamplesRW_0558
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)essv7020079
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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