A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763708



Internal ID10031058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100599084..100723665hg38UCSC Ensembl
Innerchr3:100317928..100442509hg19UCSC Ensembl
Innerchr3:101800618..101925199hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38124582
hg19124582
hg18124582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027682, essv7027675, essv7027681, essv7027676, essv7027678, essv7027677, essv7027680
SamplesSW_1064, SW_0607, SW_0173, SW_0214, SW_0008, SW_1088, SW_0568
Known GenesGPR128, TFG
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)esv2763708
Frequency
Sample Size1109
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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