A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026184



Internal ID10341679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:7645206..7669712hg38UCSC Ensembl
Innerchr20:7625853..7650359hg19UCSC Ensembl
Innerchr20:7573853..7598359hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3824507
hg1924507
hg1824507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760665
Supporting Variants
SamplesRW_0252
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)essv7026184
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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