A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000048



Internal ID10368872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:38363372..38395727hg38UCSC Ensembl
Innerchr15:38655573..38687928hg19UCSC Ensembl
Innerchr15:36442865..36475220hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3832356
hg1932356
hg1832356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761921
Supporting Variants
SamplesSW_1284
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)essv7000048
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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