A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761333



Internal ID10028695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111022794..111099567hg38UCSC Ensembl
Innerchr13:111675141..111751914hg19UCSC Ensembl
Innerchr13:110473142..110549915hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3876774
hg1976774
hg1876774
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998253, essv6998256, essv6998254
SamplesSW_1257, SW_0835, SW_0032
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)esv2761333
Frequency
Sample Size1109
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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