A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028602



Internal ID10020260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9368964..9484440hg38UCSC Ensembl
Innerchr4:9370690..9486087hg19UCSC Ensembl
Innerchr4:8979788..9095185hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38115477
hg19115398
hg18115398
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763860
Supporting Variants
SamplesSW_1202
Known GenesDEFB131, LOC650293, 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)essv7028602
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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