A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993515



Internal ID10372659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:1518733..1685649hg38UCSC Ensembl
Innerchr9:1518733..1685649hg19UCSC Ensembl
Innerchr9:1508733..1675649hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38166917
hg19166917
hg18166917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761478
Supporting Variants
SamplesSW_1452
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)essv6993515
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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