A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763893



Internal ID10031243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181145996..181185966hg38UCSC Ensembl
Innerchr5:180572996..180612966hg19UCSC Ensembl
Innerchr5:180505602..180545572hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3839971
hg1939971
hg1839971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031794, essv7031795
SamplesSW_0831, SW_0340
Known GenesOR2V2
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)esv2763893
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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