A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763733



Internal ID10031083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:5214484..5409915hg38UCSC Ensembl
Innerchr3:5256169..5451601hg19UCSC Ensembl
Innerchr3:5231169..5426601hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38195432
hg19195433
hg18195433
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024567, essv7024545, essv7024556
SamplesSW_0088, SW_1197, SW_0841
Known GenesEDEM1, MIR4790
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)esv2763733
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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