A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004004



Internal ID10009558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2740745..2944353hg38UCSC Ensembl
Innerchr20:2721391..2924999hg19UCSC Ensembl
Innerchr20:2669391..2872999hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38203609
hg19203609
hg18203609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762056
Supporting Variants
SamplesSW_0368
Known GenesC20orf141, CPXM1, EBF4, PCED1A, PTPRA, TMEM239, VPS16
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)essv7004004
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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