A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763497



Internal ID10376177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128410262..128546775hg38UCSC Ensembl
Innerchr5:127745955..127882468hg19UCSC Ensembl
Innerchr5:127773854..127910367hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38136514
hg19136514
hg18136514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031460
SamplesSW_1471
Known GenesFBN2
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)esv2763497
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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