A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006896



Internal ID10342107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196790144..196847600hg38UCSC Ensembl
Innerchr1:196759274..196816730hg19UCSC Ensembl
Innerchr1:195025897..195083353hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3857457
hg1957457
hg1857457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764178
Supporting Variants
SamplesRW_0262
Known GenesCFHR1, CFHR3
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)essv7006896
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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