A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760852



Internal ID10377159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:59558858..59997736hg38UCSC Ensembl
Innerchr4:60424576..60863454hg19UCSC Ensembl
Innerchr4:60107171..60546049hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38438879
hg19438879
hg18438879
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010906, essv7010904, essv7010905
SamplesRW_0006, RW_0279, RW_0126
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)esv2760852
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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