A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763665



Internal ID10376345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:16681573..16689232hg38UCSC Ensembl
Innerchr20:16662218..16669877hg19UCSC Ensembl
Innerchr20:16610218..16617877hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg387660
hg197660
hg187660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv91e203
Supporting Variantsessv7004034, essv7004035, essv7004037, essv7004036, essv7004038
SamplesSW_0590, SW_0006, SW_0651, SW_1087, SW_0197
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)esv2763665
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer