A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028604



Internal ID10024727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9368964..9796988hg38UCSC Ensembl
Innerchr4:9370690..9798612hg19UCSC Ensembl
Innerchr4:8979788..9407710hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38428025
hg19427923
hg18427923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763860
Supporting Variants
SamplesSW_1404
Known GenesDEFB131, DRD5, LOC650293, MIR548I2, USP17L6P
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)essv7028604
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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