A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764117



Internal ID10378153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:60945654..60967124hg38UCSC Ensembl
Innerchr8:61858213..61879683hg19UCSC Ensembl
Innerchr8:62020767..62042237hg18UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg3821471
hg1921471
hg1821471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993188, essv6993191, essv6993187
SamplesSW_1266, SW_0570, SW_0604
Known GenesLOC100130298
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)esv2764117
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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