A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012582



Internal ID10003736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14073424..14083475hg38UCSC Ensembl
Innerchr5:14073533..14083584hg19UCSC Ensembl
Innerchr5:14126533..14136584hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3810052
hg1910052
hg1810052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760949
Supporting Variants
SamplesRW_0639
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)essv7012582
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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