A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003991



Internal ID10369343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1580934..1613247hg38UCSC Ensembl
Innerchr20:1561580..1593893hg19UCSC Ensembl
Innerchr20:1509580..1541893hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3832314
hg1932314
hg1832314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763670
Supporting Variants
SamplesSW_1302
Known GenesSIRPB1
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)essv7003991
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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