A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763484



Internal ID10030834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112016656..112036262hg38UCSC Ensembl
Innerchr5:111352353..111371959hg19UCSC Ensembl
Innerchr5:111380252..111399858hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3819607
hg1919607
hg1819607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031380
SamplesSW_0018
Known GenesNREP-AS1
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)esv2763484
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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