A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006909



Internal ID10343341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196819856..196926717hg38UCSC Ensembl
Innerchr1:196788986..196895847hg19UCSC Ensembl
Innerchr1:195055609..195162470hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38106862
hg19106862
hg18106862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764178
Supporting Variants
SamplesRW_0300
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)essv7006909
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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