A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993581



Internal ID10020798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:9798243..9822053hg38UCSC Ensembl
Innerchr9:9798243..9822053hg19UCSC Ensembl
Innerchr9:9788243..9812053hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg3823811
hg1923811
hg1823811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764154
Supporting Variants
SamplesSW_1224
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)essv6993581
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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