A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027696



Internal ID10361461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119012086..119107036hg38UCSC Ensembl
Innerchr3:118730933..118825883hg19UCSC Ensembl
Innerchr3:120213623..120308573hg18UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3894951
hg1994951
hg1894951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763752
Supporting Variants
SamplesSW_0888
Known GenesIGSF11
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)essv7027696
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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