A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020275



Internal ID10342366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:124039156..124050170hg38UCSC Ensembl
Innerchr11:123909863..123920877hg19UCSC Ensembl
Innerchr11:123415073..123426087hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3811015
hg1911015
hg1811015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760192
Supporting Variants
SamplesRW_0269
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)essv7020275
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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