A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761779



Internal ID10029129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18864667..18923307hg38UCSC Ensembl
Innerchr13:19438807..19497447hg19UCSC Ensembl
Innerchr13:18336807..18395447hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg3858641
hg1958641
hg1858641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997738
SamplesSW_1166
Known GenesANKRD20A9P, LINC00408
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)esv2761779
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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