A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021281



Internal ID10339311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24998780..25007627hg38UCSC Ensembl
Innerchr13:25572918..25581765hg19UCSC Ensembl
Innerchr13:24470918..24479765hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg388848
hg198848
hg188848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760310
Supporting Variants
SamplesRW_0196
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)essv7021281
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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