A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993660



Internal ID10359085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:18380912..18405211hg38UCSC Ensembl
Innerchr9:18380910..18405209hg19UCSC Ensembl
Innerchr9:18370910..18395209hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3824300
hg1924300
hg1824300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764161
Supporting Variants
SamplesSW_0716
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)essv6993660
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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