A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008070



Internal ID9994425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130059766..130091731hg38UCSC Ensembl
Innerchr2:130817339..130849304hg19UCSC Ensembl
Innerchr2:130533809..130565774hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3831966
hg1931966
hg1831966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760631
Supporting Variants
SamplesRW_0235
Known GenesPOTEF
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)essv7008070
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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