A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000046



Internal ID10358600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:35103240..35117338hg38UCSC Ensembl
Innerchr15:35395441..35409539hg19UCSC Ensembl
Innerchr15:33182733..33196831hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3814099
hg1914099
hg1814099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761867
Supporting Variants
SamplesSW_0663
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)essv7000046
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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