A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760838



Internal ID10377145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45776982..45821105hg38UCSC Ensembl
Innerchr4:45778999..45823122hg19UCSC Ensembl
Innerchr4:45473756..45517879hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3844124
hg1944124
hg1844124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010862, essv7010861, essv7010860
SamplesRW_0062, RW_0275, RW_0646
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)esv2760838
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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