A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006920



Internal ID10346823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196843377..196940515hg38UCSC Ensembl
Innerchr1:196812507..196909645hg19UCSC Ensembl
Innerchr1:195079130..195176268hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3897139
hg1997139
hg1897139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764178
Supporting Variants
SamplesRW_0545
Known GenesCFHR4
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)essv7006920
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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