A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005066



Internal ID10357802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196832026..196936029hg38UCSC Ensembl
Innerchr1:196801156..196905159hg19UCSC Ensembl
Innerchr1:195067779..195171782hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38104004
hg19104004
hg18104004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760521
Supporting Variants
SamplesSW_0625
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)essv7005066
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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