A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011290



Internal ID10344045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76252761..76263991hg38UCSC Ensembl
Innerchr4:77173914..77185144hg19UCSC Ensembl
Innerchr4:77392938..77404168hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3811231
hg1911231
hg1811231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760851
Supporting Variants
SamplesRW_0324
Known GenesFAM47E, FAM47E-STBD1
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)essv7011290
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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