A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763908



Internal ID10031258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76787569..76838952hg38UCSC Ensembl
Innerchr5:76083394..76134777hg19UCSC Ensembl
Innerchr5:76119150..76170533hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3851384
hg1951384
hg1851384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031241, essv7031242
SamplesSW_1031, SW_0538
Known GenesF2RL1
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)esv2763908
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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