A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029703



Internal ID10004973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86054941..86058936hg38UCSC Ensembl
Innerchr4:86976094..86980089hg19UCSC Ensembl
Innerchr4:87195118..87199113hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg383996
hg193996
hg183996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763854
Supporting Variants
SamplesSW_0007
Known GenesMAPK10
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)essv7029703
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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