A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763311



Internal ID10030661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64940718..64947934hg38UCSC Ensembl
Innerchr1:65406401..65413617hg19UCSC Ensembl
Innerchr1:65178989..65186205hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg387217
hg197217
hg187217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027969
SamplesSW_1134
Known GenesJAK1
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)esv2763311
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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