A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763338



Internal ID10030688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8197364..8259085hg38UCSC Ensembl
Innerchr4:8199091..8260812hg19UCSC Ensembl
Innerchr4:8249991..8311712hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3861722
hg1961722
hg1861722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7028597
SamplesSW_1448
Known GenesSH3TC1
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)esv2763338
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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