A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761436



Internal ID10374234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:74300256..74314209hg38UCSC Ensembl
Innerchr8:75212491..75226444hg19UCSC Ensembl
Innerchr8:75375046..75388999hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3813954
hg1913954
hg1813954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993206
SamplesSW_0185
Known GenesJPH1
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)esv2761436
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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