A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006888



Internal ID10336656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196790144..196843400hg38UCSC Ensembl
Innerchr1:196759274..196812530hg19UCSC Ensembl
Innerchr1:195025897..195079153hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3853257
hg1953257
hg1853257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764178
Supporting Variants
SamplesRW_0134
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)essv7006888
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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