A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761872



Internal ID10029222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:55918867..56134303hg38UCSC Ensembl
Innerchr15:56211065..56426501hg19UCSC Ensembl
Innerchr15:53998357..54213793hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38215437
hg19215437
hg18215437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000097
SamplesSW_0216
Known GenesNEDD4, RFX7
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)esv2761872
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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