A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760681



Internal ID10376988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23184378..23193757hg38UCSC Ensembl
Innerchr20:23165015..23174394hg19UCSC Ensembl
Innerchr20:23113015..23122394hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg389380
hg199380
hg189380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026274, essv7026271, essv7026269, essv7026278, essv7026276, essv7026270, essv7026273, essv7026272, essv7026279, essv7026275
SamplesRW_0559, RW_0226, RW_0216, RW_0004, RW_0091, RW_0029, RW_0235, RW_0132, RW_0652, RW_0234
Known Genes
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)esv2760681
Frequency
Sample Size1109
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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