A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029677



Internal ID10361750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82093618..82174163hg38UCSC Ensembl
Innerchr4:83014771..83095316hg19UCSC Ensembl
Innerchr4:83233795..83314340hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg3880546
hg1980546
hg1880546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763371
Supporting Variants
SamplesSW_1006
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)essv7029677
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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