A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018060



Internal ID10000081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113092071..113121473hg38UCSC Ensembl
Innerchr9:115854351..115883753hg19UCSC Ensembl
Innerchr9:114894172..114923574hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3829403
hg1929403
hg1829403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761253
Supporting Variants
SamplesRW_0544
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)essv7018060
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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