A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761467



Internal ID10374265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:125356133..125372853hg38UCSC Ensembl
Innerchr8:126368375..126385095hg19UCSC Ensembl
Innerchr8:126437557..126454277hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3816721
hg1916721
hg1816721
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993402
SamplesSW_1148
Known GenesNSMCE2
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)esv2761467
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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