A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999954



Internal ID10018202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34421922..34508394hg38UCSC Ensembl
Innerchr15:34714123..34800595hg19UCSC Ensembl
Innerchr15:32501415..32587887hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3886473
hg1986473
hg1886473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761988
Supporting Variants
SamplesSW_1118
Known GenesGOLGA8A
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)essv6999954
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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