A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760863



Internal ID10377170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:120601303..120626306hg38UCSC Ensembl
Innerchr4:121522458..121547461hg19UCSC Ensembl
Innerchr4:121741908..121766911hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3825004
hg1925004
hg1825004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011698, essv7011700, essv7011701
SamplesRW_0606, RW_0586, RW_0548
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)esv2760863
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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