A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003783



Internal ID10359011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1571470..1601561hg38UCSC Ensembl
Innerchr20:1552116..1582207hg19UCSC Ensembl
Innerchr20:1500116..1530207hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3830092
hg1930092
hg1830092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763670
Supporting Variants
SamplesSW_0703
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)essv7003783
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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