A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005055



Internal ID10369846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196829435..196917640hg38UCSC Ensembl
Innerchr1:196798565..196886770hg19UCSC Ensembl
Innerchr1:195065188..195153393hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3888206
hg1988206
hg1888206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760521
Supporting Variants
SamplesSW_1327
Known GenesCFHR1, CFHR4
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)essv7005055
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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