A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764067



Internal ID10378103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:264809..385646hg38UCSC Ensembl
Innerchr8:214809..335646hg19UCSC Ensembl
Innerchr8:204809..325646hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38120838
hg19120838
hg18120838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991998, essv6991996, essv6991999, essv6991997
SamplesSW_0509, SW_0674, SW_1509, SW_1450
Known GenesFAM87A
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)esv2764067
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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