A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760294



Internal ID10376602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60635461..60651388hg38UCSC Ensembl
Innerchr13:61209595..61225522hg19UCSC Ensembl
Innerchr13:60107596..60123523hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3815928
hg1915928
hg1815928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021656, essv7021653, essv7021654, essv7021652
SamplesRW_0087, RW_0258, RW_0096, RW_0001
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)esv2760294
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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