A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007686



Internal ID9994143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70270692..70413622hg38UCSC Ensembl
Innerchr2:70497824..70640754hg19UCSC Ensembl
Innerchr2:70351328..70494258hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38142931
hg19142931
hg18142931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760537
Supporting Variants
SamplesRW_0229
Known GenesFAM136A, PCYOX1, SNRPG
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)essv7007686
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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