A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762789



Internal ID10375587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:8903357..9030039hg38UCSC Ensembl
Innerchr9:8903357..9030039hg19UCSC Ensembl
Innerchr9:8893357..9020039hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38126683
hg19126683
hg18126683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017542
SamplesRW_0235
Known GenesPTPRD
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)esv2762789
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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