A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763437



Internal ID10376117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5888617..5958331hg38UCSC Ensembl
Innerchr1:5948677..6018391hg19UCSC Ensembl
Innerchr1:5871264..5940978hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3869715
hg1969715
hg1869715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030745
SamplesSW_1304
Known GenesNPHP4
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)esv2763437
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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