A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027445



Internal ID10371279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75377956..75600083hg38UCSC Ensembl
Innerchr3:75427107..75649234hg19UCSC Ensembl
Innerchr3:75509797..75731924hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38222128
hg19222128
hg18222128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763755
Supporting Variants
SamplesSW_1397
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)essv7027445
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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