A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018244



Internal ID10020785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130059766..130117303hg38UCSC Ensembl
Innerchr2:130817339..130874876hg19UCSC Ensembl
Innerchr2:130533809..130591346hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3857538
hg1957538
hg1857538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763387
Supporting Variants
SamplesSW_1223
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)essv7018244
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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