A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761143



Internal ID10377450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18452809..18852422hg38UCSC Ensembl
Innerchr13:19026949..19426562hg19UCSC Ensembl
Innerchr13:17924949..18324562hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38399614
hg19399614
hg18399614
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997736, essv6997728, essv6997719, essv6997730, essv6997729, essv6997726, essv6997721, essv6997720, essv6997725, essv6997735, essv6997723, essv6997727, essv6997732, essv6997737, essv6997724, essv6997734, essv6997731
SamplesSW_1125, SW_0201, SW_0832, SW_1375, SW_1223, SW_1138, SW_1351, SW_0351, SW_0785, SW_0758, SW_1190, SW_1452, SW_0701, SW_1472, SW_1264, SW_0524, SW_1045
Known GenesANKRD20A9P, LINC00417
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)esv2761143
Frequency
Sample Size1109
Observed Gain9
Observed Loss8
Observed Complex0
Frequencyn/a


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