A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761966



Internal ID10374764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:55875052..55900663hg38UCSC Ensembl
Innerchr15:56167250..56192861hg19UCSC Ensembl
Innerchr15:53954542..53980153hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3825612
hg1925612
hg1825612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000095, essv7000096
SamplesSW_0191, SW_0144
Known GenesNEDD4
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)esv2761966
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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