A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760195



Internal ID10376503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:87584227..87618264hg38UCSC Ensembl
Innerchr11:87295119..87329156hg19UCSC Ensembl
Innerchr11:86972767..87006804hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3834038
hg1934038
hg1834038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020162, essv7020163, essv7020161, essv7020159, essv7020164, essv7020160, essv7020158, essv7020167, essv7020165, essv7020157
SamplesRW_0636, RW_0105, RW_0189, RW_0504, RW_0536, RW_0005, RW_0648, RW_0067, RW_0028, RW_0550
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)esv2760195
Frequency
Sample Size1109
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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