A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994342



Internal ID10015719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:94736502..94743326hg38UCSC Ensembl
Innerchr9:97498784..97505608hg19UCSC Ensembl
Innerchr9:96538605..96545429hg18UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg386825
hg196825
hg186825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764145
Supporting Variants
SamplesSW_1038
Known GenesC9orf3
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)essv6994342
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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