A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026250



Internal ID10334769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:16587417..16605989hg38UCSC Ensembl
Innerchr20:16568062..16586634hg19UCSC Ensembl
Innerchr20:16516062..16534634hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3818573
hg1918573
hg1818573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760669
Supporting Variants
SamplesRW_0085
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)essv7026250
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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