A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763506



Internal ID10030856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8941428..8967855hg38UCSC Ensembl
Innerchr1:9001487..9027914hg19UCSC Ensembl
Innerchr1:8924074..8950501hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3826428
hg1926428
hg1826428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031523
SamplesSW_1056
Known GenesCA6
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)esv2763506
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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