A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017590



Internal ID9999494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:11913018..12014548hg38UCSC Ensembl
Innerchr9:11913018..12014548hg19UCSC Ensembl
Innerchr9:11903018..12004548hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38101531
hg19101531
hg18101531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761283
Supporting Variants
SamplesRW_0529
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)essv7017590
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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