A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761502



Internal ID10028859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:14757879..14827375hg38UCSC Ensembl
Innerchr9:14757877..14827373hg19UCSC Ensembl
Innerchr9:14747877..14817373hg18UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg3869497
hg1969497
hg1869497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993643
SamplesSW_1423
Known GenesFREM1
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)esv2761502
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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