A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764167



Internal ID10378203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76535422..76545547hg38UCSC Ensembl
Innerchr9:79150338..79160463hg19UCSC Ensembl
Innerchr9:78340158..78350283hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3810126
hg1910126
hg1810126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994285, essv6994284
SamplesSW_0691, SW_0604
Known Genes
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)esv2764167
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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