A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998253



Internal ID10005510
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761333
Supporting Variants
SamplesSW_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)essv6998253
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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