A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763604



Internal ID10030954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:159088341..159521923hg38UCSC Ensembl
Innerchr6:159509373..159942955hg19UCSC Ensembl
Innerchr6:159429361..159862945hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38433583
hg19433583
hg18433585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033236
SamplesSW_1119
Known GenesFNDC1
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)esv2763604
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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