A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760886



Internal ID10377193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:117460136..117475046hg38UCSC Ensembl
Innerchr4:118381291..118396201hg19UCSC Ensembl
Innerchr4:118600739..118615649hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3814911
hg1914911
hg1814911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011692, essv7011693, essv7011690, essv7011691, essv7011694
SamplesRW_0256, RW_0268, RW_0357, RW_0513, RW_0162
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)esv2760886
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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