A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763361



Internal ID10030711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54236258..54241451hg38UCSC Ensembl
Innerchr4:55102425..55107618hg19UCSC Ensembl
Innerchr4:54797182..54802375hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385194
hg195194
hg185194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029263
SamplesSW_0525
Known GenesPDGFRA
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)esv2763361
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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