A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031969



Internal ID10013592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29875657..29882603hg38UCSC Ensembl
Innerchr6:29843434..29850380hg19UCSC Ensembl
Innerchr6:29951413..29958359hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg386947
hg196947
hg186947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763941
Supporting Variants
SamplesSW_0828
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)essv7031969
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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