A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027715



Internal ID10011626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128661409..128695318hg38UCSC Ensembl
Innerchr3:128380252..128414161hg19UCSC Ensembl
Innerchr3:129862942..129896851hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3833910
hg1933910
hg1833910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763764
Supporting Variants
SamplesSW_0647
Known Genes
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)essv7027715
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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