A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018116



Internal ID10337781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138137547..138200944hg38UCSC Ensembl
Innerchr9:141031999..141091394hg19UCSC Ensembl
Innerchr9:140151820..140211215hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3863398
hg1959396
hg1859396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762836
Supporting Variants
SamplesRW_0167
Known GenesTUBBP5
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)essv7018116
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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