A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028618



Internal ID10011131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9459504..9519212hg38UCSC Ensembl
Innerchr4:9461230..9520857hg19UCSC Ensembl
Innerchr4:9070328..9129955hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3859709
hg1959628
hg1859628
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763860
Supporting Variants
SamplesSW_0626
Known GenesLOC650293
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)essv7028618
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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