A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763753



Internal ID10377789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125705628..125890131hg38UCSC Ensembl
Innerchr3:125424472..125608974hg19UCSC Ensembl
Innerchr3:126907162..127091664hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38184504
hg19184503
hg18184503
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027704, essv7027705, essv7027706, essv7027702, essv7027703
SamplesSW_0045, SW_0062, SW_1134, SW_0576, SW_1308
Known GenesMIR548I1
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)esv2763753
Frequency
Sample Size1109
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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