A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028569



Internal ID10373626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65785..121682hg38UCSC Ensembl
Innerchr4:65677..121562hg19UCSC Ensembl
Innerchr4:55677..111562hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3855898
hg1955886
hg1855886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763806
Supporting Variants
SamplesSW_1510
Known GenesZNF595, ZNF718
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)essv7028569
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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