A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999906



Internal ID10027251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32212063..32323432hg38UCSC Ensembl
Innerchr15:32504264..32615633hg19UCSC Ensembl
Innerchr15:30291556..30402925hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38111370
hg19111370
hg18111370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761877
Supporting Variants
SamplesSW_1539
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)essv6999906
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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