A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760971



Internal ID10377278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18597093..18666713hg38UCSC Ensembl
Innerchr5:18597202..18666822hg19UCSC Ensembl
Innerchr5:18632959..18702579hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3869621
hg1969621
hg1869621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012687, essv7012686, essv7012689, essv7012690, essv7012691
SamplesRW_0123, RW_0071, RW_0148, RW_0029, RW_0195
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)esv2760971
Frequency
Sample Size1109
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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