A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027392



Internal ID10366824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75372019..75590743hg38UCSC Ensembl
Innerchr3:75421170..75639894hg19UCSC Ensembl
Innerchr3:75503860..75722584hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38218725
hg19218725
hg18218725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763755
Supporting Variants
SamplesSW_1197
Known GenesFAM86DP
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)essv7027392
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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