A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763995



Internal ID10031345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:4255406..4473880hg38UCSC Ensembl
Innerchr6:4255640..4474114hg19UCSC Ensembl
Innerchr6:4200639..4419113hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38218475
hg19218475
hg18218475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031873, essv7031874
SamplesSW_1447, SW_0842
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)esv2763995
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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