A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762635



Internal ID10375433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:169354584..169395330hg38UCSC Ensembl
Innerchr6:169754679..169795425hg19UCSC Ensembl
Innerchr6:169496604..169537350hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3840747
hg1940747
hg1840747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014381
SamplesRW_0001
Known Genes
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)esv2762635
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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