A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760678



Internal ID10376985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:16681573..16690114hg38UCSC Ensembl
Innerchr20:16662218..16670759hg19UCSC Ensembl
Innerchr20:16610218..16618759hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg388542
hg198542
hg188542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv91e203
Supporting Variantsessv7026258, essv7026263, essv7026261, essv7026264, essv7026262, essv7026260, essv7026259, essv7026265
SamplesRW_0634, RW_0656, RW_0626, RW_0512, RW_0318, RW_0280, RW_0299, RW_0609
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)esv2760678
Frequency
Sample Size1109
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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