A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761253



Internal ID10028615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113092071..113122780hg38UCSC Ensembl
Innerchr9:115854351..115885060hg19UCSC Ensembl
Innerchr9:114894172..114924881hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3830710
hg1930710
hg1830710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018050, essv7018065, essv7018051, essv7018046, essv7018056, essv7018047, essv7018048, essv7018059, essv7018063, essv7018061, essv7018053, essv7018060, essv7018054, essv7018049, essv7018068, essv7018058, essv7018043, essv7018052, essv7018062, essv7018045, essv7018057, essv7018067, essv7018064
SamplesRW_0213, RW_0520, RW_0325, RW_0284, RW_0090, RW_0221, RW_0179, RW_0578, RW_0571, RW_0623, RW_0144, RW_0544, RW_0158, RW_0210, RW_0632, RW_0267, RW_0004, RW_0061, RW_0625, RW_0048, RW_0254, RW_0056, RW_0606
Known GenesFAM225A, FAM225B
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)esv2761253
Frequency
Sample Size1109
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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