A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761551



Internal ID10028904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114173246..114178209hg38UCSC Ensembl
Innerchr9:116935526..116940489hg19UCSC Ensembl
Innerchr9:115975347..115980310hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg384964
hg194964
hg184964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994361
SamplesSW_0507
Known GenesCOL27A1
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)esv2761551
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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