A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018091



Internal ID10337226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:126213032..126214423hg38UCSC Ensembl
Innerchr9:128975311..128976702hg19UCSC Ensembl
Innerchr9:128015132..128016523hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381392
hg191392
hg181392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761281
Supporting Variants
SamplesRW_0148
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)essv7018091
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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